Publications:

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Acromicric dysplasia caused by a mutation of fibrillin 1 in a family: A case report.

World Journal Of Clinical Cases

Shen, Ren R; Feng, Jian-Hua JH; Yang, Shan-Pu SP

Publication Date: 2023-03-26

Variant appearance in text: FBN1: 5183C>T

PubMed Link: 36998968

Variant Present in the following documents:

• WJCC-11-2036.pdf

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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: FBN1: 5183C>T; Ala1728Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

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

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: FBN1: 5183C>T; Ala1728Val

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: FBN1: 5183C>T; A1728V

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort.

Journal Of The Endocrine Society

Crespo, Raiane P RP; Rocha, Thais P TP; Montenegro, Luciana R LR; Nishi, Mirian Y MY; Jorge, Alexander A L AAL; Maciel, Gustavo A R GAR; Baracat, Edmund E; Latronico, Ana Claudia AC; Mendonca, Berenice B BB; Gomes, Larissa G LG

Publication Date: 2022-09-01

Variant appearance in text: FBN1: Ala1728Val

PubMed Link: 35898701

Variant Present in the following documents:

• bvac106.pdf

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A Review of Three Chinese Cases of Acromicric/Geleophysic Dysplasia with FBN1 Mutations.

International Journal Of General Medicine

Shan, Yan-Chun YC; Yang, Zhao-Chuan ZC; Ma, Liang L; Ran, Ni N; Feng, Xue-Ying XY; Liu, Xiao-Mei XM; Fu, Peng P; Yi, Ming-Ji MJ

Publication Date: 2021

Variant appearance in text: FBN1: 5183C>T; A1728V

PubMed Link: 34040419

Variant Present in the following documents:

• Main text
• ijgm-14-1873.pdf

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SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo.

Clinics (Sao Paulo, Brazil)

Lerario, Antonio Marcondes AM; Mohan, Dipika R DR; Montenegro, Luciana Ribeiro LR; Funari, Mariana Ferreira de Assis MFA; Nishi, Mirian Yumie MY; Narcizo, Amanda de Moraes AM; Benedetti, Anna Flavia Figueredo AFF; Oba-Shinjo, Sueli Mieko SM; Vitorino, Aurélio José AJ; Santos, Rogério Alexandre Scripnic Xavier Dos RASXD; Jorge, Alexander Augusto de Lima AAL; Onuchic, Luiz Fernando LF; Marie, Suely Kazue Nagahashi SKN; Mendonca, Berenice Bilharinho BB

Publication Date: 2020

Variant appearance in text: FBN1: Ala1728Val

PubMed Link: 32785571

Variant Present in the following documents:

• cln-75-1913.pdf

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: FBN1: A1728V

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an 8-year-old boy with a missense FBN1 mutation: Case report and literature review.

Molecular Genetics & Genomic Medicine

Wang, Tao T; Yang, Yuyan Y; Dong, Qi Q; Zhu, Huijuan H; Liu, Yuehua Y

Publication Date: 2020-07

Variant appearance in text: FBN1: Ala1728Val

PubMed Link: 32406602

Variant Present in the following documents:

• Main text
• MGG3-8-e1282.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: FBN1: 5183C>T; A1728V

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes.

Case Reports In Endocrinology

Globa, Evgenia E; Zelinska, Nataliya N; Dauber, Andrew A

Publication Date: 2018

Variant appearance in text: FBN1: Ala1728Val

PubMed Link: 30057829

Variant Present in the following documents:

• CRIE2018-8212417.pdf

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Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.

Hormone Research In Paediatrics

de Bruin, Christiaan C; Finlayson, Courtney C; Funari, Mariana F A MF; Vasques, Gabriela A GA; Lucheze Freire, Bruna B; Lerario, Antonio M AM; Andrew, Melissa M; Hwa, Vivian V; Dauber, Andrew A; Jorge, Alexander A L AA

Publication Date: 2016

Variant appearance in text: FBN1: 5183C>T; Ala1728Val

PubMed Link: 27245183

Variant Present in the following documents:

• Main text

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Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

American Journal Of Human Genetics

Le Goff, Carine C; Mahaut, Clémentine C; Wang, Lauren W LW; Allali, Slimane S; Abhyankar, Avinash A; Jensen, Sacha S; Zylberberg, Louise L; Collod-Beroud, Gwenaelle G; Bonnet, Damien D; Alanay, Yasemin Y; Brady, Angela F AF; Cordier, Marie-Pierre MP; Devriendt, Koen K; Genevieve, David D; Kiper, Pelin Özlem Simsek PÖ; Kitoh, Hiroshi H; Krakow, Deborah D; Lynch, Sally Ann SA; Le Merrer, Martine M; Mégarbane, André A; Mortier, Geert G; Odent, Sylvie S; Polak, Michel M; Rohrbach, Marianne M; Sillence, David D; Stolte-Dijkstra, Irene I; Superti-Furga, Andrea A; Rimoin, David L DL; Topouchian, Vicken V; Unger, Sheila S; Zabel, Bernhard B; Bole-Feysot, Christine C; Nitschke, Patrick P; Handford, Penny P; Casanova, Jean-Laurent JL; Boileau, Catherine C; Apte, Suneel S SS; Munnich, Arnold A; Cormier-Daire, Valérie V

Publication Date: 2011-07-15

Variant appearance in text: FBN1: 5183C>T

PubMed Link: 21683322

Variant Present in the following documents:

• Main text

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