ALPL c.407G>A ;(p.R136H)

Variant ID: 1-21889712-G-A

NM_000478.4(ALPL):c.407G>A;(p.R136H)

This variant was identified in 41 publications

View GRCh38 version.




Publications:


Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults.

Genes
Li, Xiang X; Ren, Na N; Wang, Ziyuan Z; Wang, Ya Y; Hu, Yunqiu Y; Hu, Weiwei W; Gu, Jiemei J; Hong, Wei W; Zhang, Zhenlin Z; Wang, Chun C
Publication Date: 2023-04-16

Variant appearance in text: TNSALP: 407G>A
PubMed Link: 37107680
Variant Present in the following documents:
  • Main text
  • genes-14-00922.pdf
View BVdb publication page



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: ALPL: 407G>A; Arg136His
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications
Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD
Publication Date: 2023-02-11

Variant appearance in text: ALPL: 407G>A; Arg136His; rs121918011
PubMed Link: 36774361
Variant Present in the following documents:
  • 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening.

Molecular Genetics & Genomic Medicine
Beck, Natalie M NM; Sagaser, Katelynn G KG; Lawson, Cathleen S CS; Hertenstein, Christine C; Jachens, Ashley A; Forster, Katherine R KR; Miller, Kristen A KA; Jelin, Angie C AC; Blakemore, Karin J KJ; Hoover-Fong, Julie J
Publication Date: 2022-11-28

Variant appearance in text: ALPL: 407G>A
PubMed Link: 36444396
Variant Present in the following documents:
  • Main text
  • MGG3-11-e2056.pdf
View BVdb publication page



Genetic analysis of 55 cases with fetal skeletal dysplasia.

Orphanet Journal Of Rare Diseases
Bai, Ying Y; Sun, Yue Y; Liu, Ning N; Wang, Li L; Jiao, Zhihui Z; Hou, Yaqin Y; Duan, Huikun H; Li, Qianqian Q; Zhu, Xiaofan X; Meng, Jingjing J; Kong, Xiangdong X
Publication Date: 2022-11-09

Variant appearance in text: ALPL: 407G>A
PubMed Link: 36352425
Variant Present in the following documents:
  • Main text
  • 13023_2022_2559_MOESM2_ESM.pdf
  • 13023_2022_Article_2559.pdf
View BVdb publication page



Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: ALPL: 407G>A; R136H; rs121918011
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Correlation of changes in subclonal architecture with progression in the MMRF CoMMpass study.

Translational Oncology
Kaur, Gurvinder G; Jena, Lingaraja L; Gupta, Ritu R; Farswan, Akanksha A; Gupta, Anubha A; Sriram, K K
Publication Date: 2022-06-28

Variant appearance in text: ALPL: 407G>A; Arg136His
PubMed Link: 35777247
Variant Present in the following documents:
  • mmc5.xls, sheet 3
View BVdb publication page



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: ALPL: R136H; rs121918011
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Case Report: Variations in the ALPL Gene in Chinese Patients With Hypophosphatasia.

Frontiers In Genetics
Zhang, Qiang Q; Qin, Zailong Z; Yi, Shang S; Wei, Hao H; Zhou, Xun Zhao XZ; Shen, Fei F
Publication Date: 2021

Variant appearance in text: ALPL: 407G>A
PubMed Link: 34712267
Variant Present in the following documents:
  • Main text
  • fgene-12-732621.pdf
View BVdb publication page



Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine
Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL
Publication Date: 2021-09-09

Variant appearance in text: ALPL: R136H
PubMed Link: 34503567
Variant Present in the following documents:
  • 13073_2021_964_MOESM6_ESM.xlsx, sheet 1
  • 13073_2021_964_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Clinical, biochemical and genetic findings in adult patients with chronic hypophosphatasemia.

Journal Of Endocrinological Investigation
Guarnieri, V V; Sileri, F F; Indirli, R R; Guabello, G G; Longhi, M M; Dito, G G; Verdelli, C C; Corbetta, S S
Publication Date: 2021-07-02

Variant appearance in text: ALPL: 407G>A; Arg136His; rs121918011
PubMed Link: 34213743
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical, biochemical and genetic findings in adult patients with chronic hypophosphatasemia.

Journal Of Endocrinological Investigation
Guarnieri, V V; Sileri, F F; Indirli, R R; Guabello, G G; Longhi, M M; Dito, G G; Verdelli, C C; Corbetta, S S
Publication Date: 2022-01

Variant appearance in text: ALPL: 407G>A; Arg136His; rs121918011
PubMed Link: 34213743
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing.

Computational And Structural Biotechnology Journal
Zu, Bailing B; Zhang, Xiaoqing X; Xu, Yunlan Y; Xiang, Ying Y; Wang, Zhigang Z; Cai, Haiqing H; Wang, Bo B; You, Guoling G; Fu, Qihua Q
Publication Date: 2021

Variant appearance in text: rs121918011
PubMed Link: 34194672
Variant Present in the following documents:
  • mmc1.xlsx, sheet 4
View BVdb publication page



Diagnosis of Hypophosphatasia in Adults Presenting With Metatarsal Stress Fracture: Proof-of-Concept for a Case-Finding Strategy.

Jbmr Plus
Koehler, Kenna K; Atway, Said S; Pipes, James J; Ing, Steven S
Publication Date: 2021-06

Variant appearance in text: ALPL: 407G>A; Arg136His
PubMed Link: 34189384
Variant Present in the following documents:
  • Main text
  • JBM4-5-e10495.pdf
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: ALPL: R136H
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 7
View BVdb publication page



Clinical and genetic characteristics of hypophosphatasia in Chinese children.

Orphanet Journal Of Rare Diseases
Liu, Meijuan M; Liu, Min M; Liang, Xuejun X; Wu, Di D; Li, Wenjing W; Su, Chang C; Cao, Bingyan B; Chen, Jiajia J; Gong, Chunxiu C
Publication Date: 2021-04-07

Variant appearance in text: ALPL: 407G>A
PubMed Link: 33827627
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of pediatric hypophosphatasia on behavioral health and quality of life.

Orphanet Journal Of Rare Diseases
Pierpont, Elizabeth I EI; Simmons, Jill H JH; Spurlock, Katherine J KJ; Shanley, Ryan R; Sarafoglou, Kyriakie M KM
Publication Date: 2021-02-12

Variant appearance in text: ALPL: 407G>A
PubMed Link: 33579333
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_1722.pdf
View BVdb publication page



Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Signal Transduction And Targeted Therapy
Liu, Fatao F; Li, Yongsheng Y; Ying, Dongjian D; Qiu, Shimei S; He, Yong Y; Li, Maolan M; Liu, Yun Y; Zhang, Yijian Y; Zhu, Qin Q; Hu, Yunping Y; Liu, Liguo L; Li, Guoqiang G; Pan, Weihua W; Jin, Wei W; Mu, Jiasheng J; Cao, Yang Y; Liu, Yingbin Y
Publication Date: 2021-02-10

Variant appearance in text: ALPL: 407G>A; Arg136His; rs121918011
PubMed Link: 33563892
Variant Present in the following documents:
  • 41392_2020_412_MOESM17_ESM.xlsx, sheet 1
  • 41392_2020_412_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.

Human Genome Variation
Nagaoka, Shinichi S; Yamaguchi-Kabata, Yumi Y; Shiga, Naomi N; Tachibana, Masahito M; Yasuda, Jun J; Tadaka, Shu S; Tamiya, Gen G; Fuse, Nobuo N; Kinoshita, Kengo K; Kure, Shigeo S; Murotsuki, Jun J; Yamamoto, Masayuki M; Yaegashi, Nobuo N; Sugawara, Junichi J
Publication Date: 2021-01-15

Variant appearance in text: ALPL: Arg136His; rs121918011
PubMed Link: 33452237
Variant Present in the following documents:
  • Main text
  • 41439_2020_133_MOESM1_ESM.xlsx, sheet 1
  • 41439_2020_Article_133.pdf
View BVdb publication page



Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation.

European Journal Of Human Genetics : Ejhg
Mornet, Etienne E; Taillandier, Agnès A; Domingues, Christelle C; Dufour, Annika A; Benaloun, Emmanuelle E; Lavaud, Nicole N; Wallon, Fabienne F; Rousseau, Nathalie N; Charle, Carole C; Guberto, Mihelaiti M; Muti, Christine C; Simon-Bouy, Brigitte B
Publication Date: 2021-02

Variant appearance in text: ALPL: 407G>A
PubMed Link: 32973344
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children.

Orphanet Journal Of Rare Diseases
Vogt, Marius M; Girschick, Hermann H; Schweitzer, Tilmann T; Benoit, Clemens C; Holl-Wieden, Annette A; Seefried, Lothar L; Jakob, Franz F; Hofmann, Christine C
Publication Date: 2020-08-18

Variant appearance in text: ALPL: Arg136His
PubMed Link: 32811521
Variant Present in the following documents:
  • Main text
  • 13023_2020_Article_1500.pdf
View BVdb publication page



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: ALPL: R136H
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: N/A
PubMed Link: 32355288
Variant Present in the following documents:
View BVdb publication page



Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.

Bmc Pediatrics
Mao, Xiaojian X; Liu, Sichi S; Lin, Yunting Y; Chen, Zhen Z; Shao, Yongxian Y; Yu, Qiaoli Q; Liu, Haiying H; Lu, Zhikun Z; Sheng, Huiyin H; Lu, Xinshuo X; Huang, Yonglan Y; Liu, Li L; Zeng, Chunhua C
Publication Date: 2019-11-25

Variant appearance in text: ALPL: 407G>A
PubMed Link: 31760938
Variant Present in the following documents:
  • 12887_2019_Article_1800.pdf
View BVdb publication page



Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types.

Plos One
Okawa, Rena R; Kokomoto, Kazuma K; Kitaoka, Taichi T; Kubota, Takuo T; Watanabe, Atsushi A; Taketani, Takeshi T; Michigami, Toshimi T; Ozono, Keiichi K; Nakano, Kazuhiko K
Publication Date: 2019

Variant appearance in text: ALPL: 407G>A
PubMed Link: 31600233
Variant Present in the following documents:
  • Main text
  • pone.0222931.pdf
View BVdb publication page



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: ALPL: 407G>A; Arg136His; rs121918011
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: ALPL: 407G>A; Arg136His
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Incidence of Mutations in the ALPL, GGPS1, and CYP1A1 Genes in Patients With Atypical Femoral Fractures.

Jbmr Plus
Peris, Pilar P; González-Roca, Eva E; Rodríguez-García, Sebastian C SC; Del Mar López-Cobo, María M; Monegal, Ana A; Guañabens, Núria N
Publication Date: 2019-01

Variant appearance in text: ALPL: 407G>A
PubMed Link: 30680361
Variant Present in the following documents:
  • JBM4-3-29.pdf
View BVdb publication page



Alkaline Phosphatase Controls Lineage Switching of Mesenchymal Stem Cells by Regulating the LRP6/GSK3β Complex in Hypophosphatasia.

Theranostics
Liu, Wenjia W; Zhang, Liqiang L; Xuan, Kun K; Hu, Chenghu C; Li, Liya L; Zhang, Yongjie Y; Jin, Fang F; Jin, Yan Y
Publication Date: 2018

Variant appearance in text: ALPL: 407G>A
PubMed Link: 30555565
Variant Present in the following documents:
  • Main text
  • thnov08p5575.pdf
View BVdb publication page



The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications
Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ
Publication Date: 2018-09-04

Variant appearance in text: ALPL: R136H
PubMed Link: 30181556
Variant Present in the following documents:
  • 41467_2018_5914_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Four novel mutations in the ALPL gene in Chinese patients with odonto, childhood, and adult hypophosphatasia.

Bioscience Reports
Xu, Lijun L; Pang, Qianqian Q; Jiang, Yan Y; Wang, Ou O; Li, Mei M; Xing, Xiaoping X; Xia, Weibo W
Publication Date: 2018-08-31

Variant appearance in text: TNSALP: R136H
PubMed Link: 29724887
Variant Present in the following documents:
  • Main text
  • bsr-38-bsr20171377.pdf
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: ALPL: 407G>A; R136H; rs121918011
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



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: ALPL: 407G>A; Arg136His
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



[Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics
Li, Deng-Feng DF; Lan, Dan D; Zhong, Jing-Zi JZ; Dewan, Roma Kajal RK; Xie, Yan-Shu YS; Yang, Ying Y
Publication Date: 2017-05

Variant appearance in text: ALPL: 407G>A; Arg136His
PubMed Link: 28506345
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: ALPL: R136H; rs121918011
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 8
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: ALPL: 407G>A; R136H
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 3
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: ALPL: R136H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.

Scientific Reports
Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK
Publication Date: 2014-11-14

Variant appearance in text: ALPL: R136H; rs121918011
PubMed Link: 25394353
Variant Present in the following documents:
  • srep07063-s2.xls, sheet 2
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: ALPL: R136H
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia.

The Journal Of Biological Chemistry
Silvent, Jérémie J; Gasse, Barbara B; Mornet, Etienne E; Sire, Jean-Yves JY
Publication Date: 2014-08-29

Variant appearance in text: ALPL: R136H
PubMed Link: 25023282
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A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.

Orphanet Journal Of Rare Diseases
Cui, Yazhou Y; Zhao, Heng H; Liu, Zhenxing Z; Liu, Chao C; Luan, Jing J; Zhou, Xiaoyan X; Han, Jinxiang J
Publication Date: 2012-08-22

Variant appearance in text: ALPL: R136H
PubMed Link: 22913777
Variant Present in the following documents:
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  • 1750-1172-7-55.pdf
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Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.

Bmc Medical Genetics
Fauvert, Delphine D; Brun-Heath, Isabelle I; Lia-Baldini, Anne-Sophie AS; Bellazi, Linda L; Taillandier, Agnès A; Serre, Jean-Louis JL; de Mazancourt, Philippe P; Mornet, Etienne E
Publication Date: 2009-06-06

Variant appearance in text: ALPL: 407G>A
PubMed Link: 19500388
Variant Present in the following documents:
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  • 1471-2350-10-51.pdf
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