Publications:

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Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.

Frontiers In Physiology

Bloch-Zupan, Agnes A; Rey, Tristan T; Jimenez-Armijo, Alexandra A; Kawczynski, Marzena M; Kharouf, Naji N; , ; Dure-Molla, Muriel de La M; Noirrit, Emmanuelle E; Hernandez, Magali M; Joseph-Beaudin, Clara C; Lopez, Serena S; Tardieu, Corinne C; Thivichon-Prince, Béatrice B; , ; Dostalova, Tatjana T; Macek, Milan M; , ; Alloussi, Mustapha El ME; Qebibo, Leila L; Morkmued, Supawich S; Pungchanchaikul, Patimaporn P; Orellana, Blanca Urzúa BU; Manière, Marie-Cécile MC; Gérard, Bénédicte B; Bugueno, Isaac Maximiliano IM; Laugel-Haushalter, Virginie V

Publication Date: 2023

Variant appearance in text: LAMB3: 1903C>T; Arg635*

PubMed Link: 37228816

Variant Present in the following documents:

• Main text
• fphys-14-1130175.pdf

View BVdb publication page

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Molecular genetic basis of epidermolysis bullosa.

Vavilovskii Zhurnal Genetiki I Selektsii

Kotalevskaya, Yu Yu YY; Stepanov, V A VA

Publication Date: 2023-03

Variant appearance in text: LAMB3: R635X

PubMed Link: 36923479

Variant Present in the following documents:

• Main text
• VJGB-27-2304.pdf

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: LAMB3: 1903C>T; Arg635Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Tricky TRIC: A replication study using trophoblast retrieval and isolation from the cervix to study genetic birth defects.

Prenatal Diagnosis

van Dijk, Marie M; Boussata, Souad S; Janssen, Dianta D; Afink, Gijs G; Jebbink, Jiska J; van Maarle, Merel M; Wortelboer, Esther E; Kooper, Angelique A; Pajkrt, Eva E

Publication Date: 2022-11-06

Variant appearance in text: LAMB3: 1903C>T

PubMed Link: 36336875

Variant Present in the following documents:

• PD-42-1612-s001.pdf
• PD-42-1612.pdf

View BVdb publication page

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Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report.

Frontiers In Genetics

Wang, Wei W; Guo, Qiang Q; Chen, Jinshan J; Zhang, Xi X; Li, Chengyong C; Li, Shuangping S; Liang, Jialin J; Hao, Chuan C; Wang, Jingqi J

Publication Date: 2022

Variant appearance in text: LAMB3: 1903C>T; R635X

PubMed Link: 36246619

Variant Present in the following documents:

• Main text
• fgene-13-965375.pdf

View BVdb publication page

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Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.

Diagnostics (Basel, Switzerland)

Pânzaru, Monica-Cristina MC; Caba, Lavinia L; Florea, Laura L; Braha, Elena Emanuela EE; Gorduza, Eusebiu Vlad EV

Publication Date: 2022-05-27

Variant appearance in text: LAMB3: 1903C>T

PubMed Link: 35741135

Variant Present in the following documents:

• Main text
• diagnostics-12-01325.pdf

View BVdb publication page

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Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine

Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z

Publication Date: 2022-07

Variant appearance in text: LAMB3: 1903C>T; R635X; rs80356682

PubMed Link: 35665681

Variant Present in the following documents:

• mmc26.xlsx, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: LAMB3: R635X; rs80356682

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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Revertant Mosaicism in Epidermolysis Bullosa.

Biomedicines

Meyer-Mueller, Cameron C; Osborn, Mark J MJ; Tolar, Jakub J; Boull, Christina C; Ebens, Christen L CL

Publication Date: 2022-01-06

Variant appearance in text: LAMB3: 1903C>T; Arg635X

PubMed Link: 35052793

Variant Present in the following documents:

• Main text
• biomedicines-10-00114.pdf

View BVdb publication page

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Revertant Mosaicism in Epidermolysis Bullosa.

Biomedicines

Meyer-Mueller, Cameron C; Osborn, Mark J MJ; Tolar, Jakub J; Boull, Christina C; Ebens, Christen L CL

Publication Date: 2022-01-06

Variant appearance in text: LAMB3: 1903C>T; Arg635X

PubMed Link: 35052793

Variant Present in the following documents:

• Main text
• biomedicines-10-00114.pdf

View BVdb publication page

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Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia).

Genes

Nadyrshina, Dina D; Zaripova, Aliya A; Tyurin, Anton A; Minniakhmetov, Ildar I; Zakharova, Ekaterina E; Khusainova, Rita R

Publication Date: 2022-01-10

Variant appearance in text: LAMB3: 1903C>T; Arg635*

PubMed Link: 35052464

Variant Present in the following documents:

• Main text

View BVdb publication page

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Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia).

Genes

Nadyrshina, Dina D; Zaripova, Aliya A; Tyurin, Anton A; Minniakhmetov, Ildar I; Zakharova, Ekaterina E; Khusainova, Rita R

Publication Date: 2022-01-10

Variant appearance in text: LAMB3: 1903C>T; Arg635*

PubMed Link: 35052464

Variant Present in the following documents:

• Main text

View BVdb publication page

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PDigenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family.

Cell Journal

Riahi, Kourosh K; Ghanbari Mardasi, Farideh F; Talebi, Farah F; Jasemi, Farzad F; Mohammadi Asl, Javad J

Publication Date: 2021-10

Variant appearance in text: LAMB3: R635X

PubMed Link: 34837689

Variant Present in the following documents:

• Cell-J-23-598.pdf

View BVdb publication page

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Hologene 5: A Phase II/III Clinical Trial of Combined Cell and Gene Therapy of Junctional Epidermolysis Bullosa.

Frontiers In Genetics

De Rosa, Laura L; Enzo, Elena E; Zardi, Giulia G; Bodemer, Christine C; Magnoni, Cristina C; Schneider, Holm H; De Luca, Michele M

Publication Date: 2021

Variant appearance in text: LAMB3: 1903C>T; R635X

PubMed Link: 34539738

Variant Present in the following documents:

• Main text
• fgene-12-705019.pdf

View BVdb publication page

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Gene Replacement Therapies for Genodermatoses: A Status Quo.

Frontiers In Genetics

Koller, Ulrich U; Bauer, Johann W JW

Publication Date: 2021

Variant appearance in text: LAMB3: R635X

PubMed Link: 33995490

Variant Present in the following documents:

• Main text
• fgene-12-658295.pdf

View BVdb publication page

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: LAMB3: R635X

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Cells from discarded dressings differentiate chronic from acute wounds in patients with Epidermolysis Bullosa.

Scientific Reports

Fuentes, Ignacia I; Guttmann-Gruber, Christina C; Tockner, Birgit B; Diem, Anja A; Klausegger, Alfred A; Cofré-Araneda, Glenda G; Figuera, Olga O; Hidalgo, Yessia Y; Morandé, Pilar P; Palisson, Francis F; Rebolledo-Jaramillo, Boris B; Yubero, María Joao MJ; Cho, Raymond J RJ; Rishel, Heather I HI; Marinkovich, M Peter MP; Teng, Joyce M C JMC; Webster, Timothy G TG; Prisco, Marco M; Eraso, Luis H LH; Piñon Hofbauer, Josefina J; South, Andrew P AP

Publication Date: 2020-09-15

Variant appearance in text: LAMB3: 1903C>T

PubMed Link: 32934247

Variant Present in the following documents:

• 41598_2020_71794_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Nature Communications

Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG

Publication Date: 2020-04-02

Variant appearance in text: LAMB3: 1903C>T; Arg635Ter

PubMed Link: 32242007

Variant Present in the following documents:

• 41467_2020_15461_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Multiple Skin Squamous Cell Carcinomas in Junctional Epidermolysis Bullosa Due to Altered Laminin-332 Function.

International Journal Of Molecular Sciences

Fortugno, Paola P; Condorelli, Angelo Giuseppe AG; Dellambra, Elena E; Guerra, Liliana L; Cianfarani, Francesca F; Tinaburri, Lavinia L; Proto, Vittoria V; De Luca, Naomi N; Passarelli, Francesca F; Ricci, Francesca F; Zambruno, Giovanna G; Castiglia, Daniele D

Publication Date: 2020-02-20

Variant appearance in text: LAMB3: 1903C>T; Arg635*

PubMed Link: 32093196

Variant Present in the following documents:

• Main text
• ijms-21-01426.pdf

View BVdb publication page

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: LAMB3: 1903C>T; Arg635*

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

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Context-Dependent Strategies for Enhanced Genome Editing of Genodermatoses.

Cells

March, Oliver Patrick OP; Kocher, Thomas T; Koller, Ulrich U

Publication Date: 2020-01-02

Variant appearance in text: LAMB3: 1903C>T

PubMed Link: 31906492

Variant Present in the following documents:

• Main text
• cells-09-00112.pdf

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: LAMB3: 1903C>T; Arg635Ter; rs80356682

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: LAMB3: 1903C>T; Arg635*; rs80356682

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Exome sequencing in patients with chronic central serous chorioretinopathy.

Scientific Reports

Schellevis, Rosa L RL; Breukink, Myrte B MB; Gilissen, Christian C; Boon, Camiel J F CJF; Hoyng, Carel B CB; de Jong, Eiko K EK; den Hollander, Anneke I AI

Publication Date: 2019-04-29

Variant appearance in text: LAMB3: R635X; rs80356682

PubMed Link: 31036833

Variant Present in the following documents:

• 41598_2019_43152_MOESM1_ESM.pdf

View BVdb publication page

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Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta.

Journal Of Dental Research

Smith, C E L CEL; Poulter, J A JA; Brookes, S J SJ; Murillo, G G; Silva, S S; Brown, C J CJ; Patel, A A; Hussain, H H; Kirkham, J J; Inglehearn, C F CF; Mighell, A J AJ

Publication Date: 2019-06

Variant appearance in text: LAMB3: 1903C>T; R635*

PubMed Link: 30905256

Variant Present in the following documents:

• Main text
• DS_10.1177_0022034519835205.pdf
• 10.1177_0022034519835205.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: LAMB3: R635X; rs80356682

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Targeted next-generation sequencing identifies a novel mutation of LAMB3 in a Chinese neonatal patient presented with junctional epidermolysis bullosa.

Medicine

Wang, Hairong H; Yang, Yun Y; Zhou, Jieqiong J; Cao, Jiangxia J; He, Xuelian X; Li, Long L; Gao, Shuyang S; Mao, Bing B; Tian, Ping P; Zhou, Aifen A

Publication Date: 2018-12

Variant appearance in text: LAMB3: R635X

PubMed Link: 30544381

Variant Present in the following documents:

• Main text
• medi-97-e13225.pdf

View BVdb publication page

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CRISPR-induced exon skipping is dependent on premature termination codon mutations.

Genome Biology

Sui, Tingting T; Song, Yuning Y; Liu, Zhiquan Z; Chen, Mao M; Deng, Jichao J; Xu, Yuanyuan Y; Lai, Liangxue L; Li, Zhanjun Z

Publication Date: 2018-10-17

Variant appearance in text: LAMB3: 1903C>T

PubMed Link: 30333044

Variant Present in the following documents:

• 13059_2018_1532_MOESM3_ESM.pdf

View BVdb publication page

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Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.

Human Genetics

Du, Renqian R; Dinckan, Nuriye N; Song, Xiaofei X; Coban-Akdemir, Zeynep Z; Jhangiani, Shalini N SN; Guven, Yeliz Y; Aktoren, Oya O; Kayserili, Hulya H; Petty, Lauren E LE; Muzny, Donna M DM; Below, Jennifer E JE; Boerwinkle, Eric E; Wu, Nan N; Gibbs, Richard A RA; Posey, Jennifer E JE; Lupski, James R JR; Letra, Ariadne A; Uyguner, Z Oya ZO

Publication Date: 2018-09

Variant appearance in text: LAMB3: 1903C>T; Arg635*

PubMed Link: 30046887

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gentamicin induces LAMB3 nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Lincoln, Vadim V; Cogan, Jon J; Hou, Yingping Y; Hirsch, Michaela M; Hao, Michelle M; Alexeev, Vitali V; De Luca, Michele M; De Rosa, Laura L; Bauer, Johann W JW; Woodley, David T DT; Chen, Mei M

Publication Date: 2018-07-10

Variant appearance in text: LAMB3: R635X

PubMed Link: 29946029

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic mutational testing of Chinese children with familial hematuria with biopsy‑proven FSGS.

Molecular Medicine Reports

Li, Yongzhen Y; Wang, Ying Y; He, Qingnan Q; Dang, Xiqiang X; Cao, Yan Y; Wu, Xiaochuan X; Mo, Shuanghong S; He, Xiaoxie X; Yi, Zhuwen Z

Publication Date: 2018-01

Variant appearance in text: rs80356682

PubMed Link: 29138824

Variant Present in the following documents:

• Main text
• mmr-17-01-1513.pdf

View BVdb publication page

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The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics

Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M

Publication Date: 2017-09

Variant appearance in text: LAMB3: 1903C>T; Arg635Ter; rs80356682

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: LAMB3: 1903C>T; Arg635Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016.

Molecular And Cellular Pediatrics

van den Bruck, Rhea R; Weil, Patrick P PP; Ziegenhals, Thomas T; Schreiner, Philipp P; Juranek, Stefan S; Gödde, Daniel D; Vogel, Silvia S; Schuster, Frauke F; Orth, Valerie V; Dörner, Johannes J; Pembaur, Daniel D; Röper, Meike M; Störkel, Stefan S; Zirngibl, Hubert H; Wirth, Stefan S; Jenke, Andreas C W ACW; Postberg, Jan J; Boy, Nikolas N; Heringer, Jana J; Haege, Gisela G; Glahn, Esther M EM; Hoffmann, Georg F GF; Garbade, Sven F SF; Burgard, Peter P; Kölker, Stefan S; Chao, Cho-Ming CM; Yahya, Faady F; Moiseenko, Alena A; Shrestha, Amit A; Ahmadvand, Negah N; Quantius, Jennifer J; Wilhelm, Jochen J; El-Agha, Elie E; Zimmer, Klaus-Peter KP; Bellusci, Saverio S; Staufner, Christian C; Kölker, Stefan S; Prokisch, Holger H; Hoffmann, Georg F GF; Seeliger, Stephan S; Müller, Matthias M; Hippe, Andreas A; Steinkraus, Henrik H; Wauer, Roland R; Lachmann, Burkhard B; Hofmann, Sigrun R SR; Hedrich, Christian M CM; Zierk, Jakob J; Arzideh, Farhad F; Haeckel, Rainer R; Rascher, Wolfgang W; Rauh, Manfred M; Metzler, Markus M; Thieme, Sebastian S; Bandoła, Joanna J; Richter, Cornelia C; Ryser, Martin M; Jamal, Arshad A; Ashton, Michelle P MP; von Bonin, Malte M; Kuhn, Matthias M; Hedrich, Christian M CM; Bonifacio, Ezio E; Berner, Reinhard R; Brenner, Sebastian S; Hammersen, Johanna J; Has, Cristina C; Naumann-Bartsch, Nora N; Stachel, Daniel D; Kiritsi, Dimitra D; Söder, Stephan S; Tardieu, Mathilde M; Metzler, Markus M; Bruckner-Tuderman, Leena L; Schneider, Holm H; Bohne, F F; Langer, D D; Cencic, R R; Eggermann, T T; Zechner, U U; Pelletier, J J; Zepp, F F; Enklaar, T T; Prawitt, D D; Pech, Martin M; Weckmann, Markus M; Heinsen, Femke-Anouska FA; Franke, Andre A; Happle, Christine C; Dittrich, Anna-Maria AM; Hansen, Gesine G; Fuchs, Oliver O; von Mutius, Erika E; Oliver, Brian G BG; Kopp, Matthias V MV; Paret, Claudia C; Russo, Alexandra A; Theruvath, Johanna J; Keller, Bettina B; El Malki, Khalifa K; Lehmann, Nadine N; Wingerter, Arthur A; Neu, Marie A MA; Aslihan, Gerhold-Ay GA; Wagner, Wolfgang W; Sommer, Clemens C; Pietsch, Torsten T; Seidmann, Larissa L; Faber, Jörg J; Schreiner, Felix F; Ackermann, Merle M; Michalik, Michael M; Rother, Eva E; Bilkei-Gorzo, Andras A; Racz, Ildiko I; Bindila, Laura L; Lutz, Beat B; Dötsch, Jörg J; Zimmer, Andreas A; Woelfle, Joachim J; Fischer, Hendrik S HS; Ullrich, Tim L TL; Bührer, Christoph C; Czernik, Christoph C; Schmalisch, Gerd G; Stein, Robert R; Hofmann, Sigrun R SR; Hagenbuchner, Judith J; Kiechl-Kohlendorfer, Ursula U; Obexer, Petra P; Ausserlechner, Michael J MJ; Loges, Niki T NT; Frommer, Adrien Tobias AT; Wallmeier, Julia J; Omran, Heymut H; Öner-Sieben, Soner S; Gimpfl, Martina M; Rozman, Jan J; Irmler, Martin M; Beckers, Johannes J; De Angelis, Martin Hrabe MH; Roscher, Adelbert A; Wolf, Eckhard E; Ensenauer, Regina R; Nemes, Karolina K; Frühwald, Michael M; Hasselblatt, Martin M; Siebert, Reiner R; Kordes, Uwe U; Kool, Marcel M; Wang, Haicui H; Hardy, Holly H; Refai, Osama O; Barwick, Katy E S KES; Zimmerman, Holly H HH; Weis, Joachim J; Baple, Emma L EL; Crosby, Andrew H AH; Cirak, Sebahattin S; Hellmuth, C C; Uhl, O O; Standl, M M; Heinrich, J J; Thiering, E E; Koletzko, B B; Blümel, Lena L; Kerl, Kornelius K; Picard, Daniel D; Frühwald, Michael C MC; Liebau, Max C MC; Reifenberger, Guido G; Borkhardt, Arndt A; Hasselblatt, Martin M; Remke, Marc M; Tews, D D; Wabitsch, M M; Fischer-Posovszky, P P; Westhoff, Mike-Andrew MA; Nonnenmacher, Lisa L; Langhans, Julia J; Schneele, Lukas L; Trenkler, Nancy N; Debatin, Klaus-Michael KM

Publication Date: 2017-05

Variant appearance in text: LAMB3: 1903C>T

PubMed Link: 28516419

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Colchicine may assist in reducing granulation tissue in junctional epidermolysis bullosa.

International Journal Of Women'S Dermatology

Kim, Minhee M; Jain, Swaranjali S; Harris, Adam G AG; Murrell, Dedee F DF

Publication Date: 2016-06

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PubMed Link: 28492007

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Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency.

European Journal Of Human Genetics : Ejhg

Gostyńska, Katarzyna B KB; Yan Yuen, Wing W; Pasmooij, Anna Maria Gerdina AMG; Stellingsma, Cornelius C; Pas, Hendri H HH; Lemmink, Henny H; Jonkman, Marcel F MF

Publication Date: 2016-01

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PubMed Link: 27827380

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Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases.

Orphanet Journal Of Rare Diseases

Montaudié, H H; Chiaverini, C C; Sbidian, E E; Charlesworth, A A; Lacour, J-P JP

Publication Date: 2016-08-20

Variant appearance in text: LAMB3: 1903C>T; Arg635X

PubMed Link: 27544590

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A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

Journal Of Medical Genetics

Prasad, Megana K MK; Geoffroy, Véronique V; Vicaire, Serge S; Jost, Bernard B; Dumas, Michael M; Le Gras, Stéphanie S; Switala, Marzena M; Gasse, Barbara B; Laugel-Haushalter, Virginie V; Paschaki, Marie M; Leheup, Bruno B; Droz, Dominique D; Dalstein, Amelie A; Loing, Adeline A; Grollemund, Bruno B; Muller-Bolla, Michèle M; Lopez-Cazaux, Séréna S; Minoux, Maryline M; Jung, Sophie S; Obry, Frédéric F; Vogt, Vincent V; Davideau, Jean-Luc JL; Davit-Beal, Tiphaine T; Kaiser, Anne-Sophie AS; Moog, Ute U; Richard, Béatrice B; Morrier, Jean-Jacques JJ; Duprez, Jean-Pierre JP; Odent, Sylvie S; Bailleul-Forestier, Isabelle I; Rousset, Monique Marie MM; Merametdijan, Laure L; Toutain, Annick A; Joseph, Clara C; Giuliano, Fabienne F; Dahlet, Jean-Christophe JC; Courval, Aymeric A; El Alloussi, Mustapha M; Laouina, Samir S; Soskin, Sylvie S; Guffon, Nathalie N; Dieux, Anne A; Doray, Bérénice B; Feierabend, Stephanie S; Ginglinger, Emmanuelle E; Fournier, Benjamin B; de la Dure Molla, Muriel M; Alembik, Yves Y; Tardieu, Corinne C; Clauss, François F; Berdal, Ariane A; Stoetzel, Corinne C; Manière, Marie Cécile MC; Dollfus, Hélène H; Bloch-Zupan, Agnès A

Publication Date: 2016-02

Variant appearance in text: LAMB3: R635*

PubMed Link: 26502894

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Immunogenicity of decidual stromal cells in an epidermolysis bullosa patient and in allogeneic hematopoietic stem cell transplantation patients.

Stem Cells And Development

Kaipe, Helen H; Carlson, Lena-Maria LM; Erkers, Tom T; Nava, Silvia S; Molldén, Pia P; Gustafsson, Britt B; Qian, Hua H; Li, Xiaoguang X; Hashimoto, Takashi T; Sadeghi, Behnam B; Alheim, Mats M; Ringdén, Olle O

Publication Date: 2015-06-15

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PubMed Link: 25658253

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Molecular identification of collagen 17a1 as a major genetic modifier of laminin gamma 2 mutation-induced junctional epidermolysis bullosa in mice.

Plos Genetics

Sproule, Thomas J TJ; Bubier, Jason A JA; Grandi, Fiorella C FC; Sun, Victor Z VZ; Philip, Vivek M VM; McPhee, Caroline G CG; Adkins, Elisabeth B EB; Sundberg, John P JP; Roopenian, Derry C DC

Publication Date: 2014-02

Variant appearance in text: LAMB3: R635X

PubMed Link: 24550734

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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: LAMB3: 1903C>T; R635*; rs80356682

PubMed Link: 23334666

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• NIHMS474900-supplement-8.xlsx, sheet 1

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Laminin 332 in junctional epidermolysis bullosa.

Cell Adhesion & Migration

Kiritsi, Dimitra D; Has, Cristina C; Bruckner-Tuderman, Leena L

Publication Date: 2013

Variant appearance in text: LAMB3: R635X

PubMed Link: 23076207

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Keratinocytes from induced pluripotent stem cells in junctional epidermolysis bullosa.

The Journal Of Investigative Dermatology

Tolar, Jakub J; Xia, Lily L; Lees, Chris J CJ; Riddle, Megan M; McElroy, Amber A; Keene, Douglas R DR; Lund, Troy C TC; Osborn, Mark J MJ; Marinkovich, M Peter MP; Blazar, Bruce R BR; Wagner, John E JE

Publication Date: 2013-02

Variant appearance in text: LAMB3: 1903C>T; Arg635X

PubMed Link: 22931927

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Dynamic interactions of epidermal collagen XVII with the extracellular matrix: laminin 332 as a major binding partner.

The American Journal Of Pathology

Nishie, Wataru W; Kiritsi, Dimitra D; Nyström, Alexander A; Hofmann, Silke C SC; Bruckner-Tuderman, Leena L

Publication Date: 2011-08

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PubMed Link: 21801871

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Revertant mosaicism in skin: natural gene therapy.

Trends In Molecular Medicine

Lai-Cheong, Joey E JE; McGrath, John A JA; Uitto, Jouni J

Publication Date: 2011-03

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PubMed Link: 21195026

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Clinical assessment incorporating a personal genome.

Lancet (London, England)

Ashley, Euan A EA; Butte, Atul J AJ; Wheeler, Matthew T MT; Chen, Rong R; Klein, Teri E TE; Dewey, Frederick E FE; Dudley, Joel T JT; Ormond, Kelly E KE; Pavlovic, Aleksandra A; Morgan, Alexander A AA; Pushkarev, Dmitry D; Neff, Norma F NF; Hudgins, Louanne L; Gong, Li L; Hodges, Laura M LM; Berlin, Dorit S DS; Thorn, Caroline F CF; Sangkuhl, Katrin K; Hebert, Joan M JM; Woon, Mark M; Sagreiya, Hersh H; Whaley, Ryan R; Knowles, Joshua W JW; Chou, Michael F MF; Thakuria, Joseph V JV; Rosenbaum, Abraham M AM; Zaranek, Alexander Wait AW; Church, George M GM; Greely, Henry T HT; Quake, Stephen R SR; Altman, Russ B RB

Publication Date: 2010-05-01

Variant appearance in text: LAMB3: R635X

PubMed Link: 20435227

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Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3.

The Journal Of Clinical Investigation

Pasmooij, Anna M G AM; Pas, Hendri H HH; Bolling, Maria C MC; Jonkman, Marcel F MF

Publication Date: 2007-05

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PubMed Link: 17476356

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Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.

American Journal Of Human Genetics

Ming, Jeffrey E JE; Muenke, Maximilian M

Publication Date: 2002-11

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PubMed Link: 12395298

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In vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Robbins, P B PB; Lin, Q Q; Goodnough, J B JB; Tian, H H; Chen, X X; Khavari, P A PA

Publication Date: 2001-04-24

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PubMed Link: 11296269

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