Publications:

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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: HSD11B2: 637C>T; Arg213Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Apparent mineralocorticoid excess: comprehensive overview of molecular genetics.

Journal Of Translational Medicine

Lu, Yi-Ting YT; Zhang, Di D; Zhang, Qiong-Yu QY; Zhou, Ze-Ming ZM; Yang, Kun-Qi KQ; Zhou, Xian-Liang XL; Peng, Fan F

Publication Date: 2022-11-03

Variant appearance in text: HSD11B2: R213C

PubMed Link: 36329487

Variant Present in the following documents:

• Main text

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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: HSD11B2: 637C>T; Arg213Cys; rs28934591

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency.

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

Yau, Mabel M; Haider, Shozeb S; Khattab, Ahmed A; Ling, Chen C; Mathew, Mehr M; Zaidi, Samir S; Bloch, Madison M; Patel, Monica M; Ewert, Sinead S; Abdullah, Wafa W; Toygar, Aysenur A; Mudryi, Vitalii V; Al Badi, Maryam M; Alzubdi, Mouch M; Wilson, Robert C RC; Al Azkawi, Hanan Said HS; Ozdemir, Hatice Nur HN; Abu-Amer, Wahid W; Hertecant, Jozef J; Razzaghy-Azar, Maryam M; Funder, John W JW; Al Senani, Aisha A; Sun, Li L; Kim, Se-Min SM; Yuen, Tony T; Zaidi, Mone M; New, Maria I MI

Publication Date: 2017-12-26

Variant appearance in text: HSD11B2: R213C

PubMed Link: 29229831

Variant Present in the following documents:

• Main text

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: HSD11B2: 637C>T; Arg213Cys

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

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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: HSD11B2: R213C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.

Bioinformatics And Biology Insights

Isokpehi, Raphael D RD; Cohly, Hari H P HH; Anyanwu, Matthew N MN; Rajnarayanan, Rajendram V RV; Tchounwou, Paul B PB; Udensi, Udensi K UK; Graham-Evans, Barbara E BE

Publication Date: 2010-10-11

Variant appearance in text: HSD11B2: R213C

PubMed Link: 20981267

Variant Present in the following documents:

• BBI-4-supplementary.xls, sheet 4

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In silico structure-function analysis of pathological variation in the HSD11B2 gene sequence.

Physiological Genomics

Manning, Jonathan R JR; Bailey, Matthew A MA; Soares, Dinesh C DC; Dunbar, Donald R DR; Mullins, John J JJ

Publication Date: 2010-08

Variant appearance in text: HSD11B2: R213C

PubMed Link: 20571110

Variant Present in the following documents:

• Main text

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