Publications:

---

KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs121434451

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

---

KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs121434451

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

---

Control of Breast Cancer Pathogenesis by Histone Methylation and the Hairless Histone Demethylase.

Endocrinology

Trager, Megan H MH; Sah, Bindeshwar B; Chen, Zhongming Z; Liu, Liang L

Publication Date: 2021-08-01

Variant appearance in text: HR: D1012N

PubMed Link: 33928351

Variant Present in the following documents:

• Main text

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: HR: 3034G>A; Asp1012Asn; rs121434451

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

---

Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: HR: 3034G>A

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: ALUNC: D1012N

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: HR: D1012N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

The roles of Jumonji-type oxygenases in human disease.

Epigenomics

Johansson, Catrine C; Tumber, Anthony A; Che, KaHing K; Cain, Peter P; Nowak, Radosław R; Gileadi, Carina C; Oppermann, Udo U

Publication Date: 2014-02

Variant appearance in text: HR: D1012N

PubMed Link: 24579949

Variant Present in the following documents:

• Main text
• emss-57740.pdf

View BVdb publication page

---

Hairless is a histone H3K9 demethylase.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Liu, Liang L; Kim, Hyunmi H; Casta, Alex A; Kobayashi, Yuki Y; Shapiro, Lawrence S LS; Christiano, Angela M AM

Publication Date: 2014-04

Variant appearance in text: HR: D1012N

PubMed Link: 24334705

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Analysis of hairless corepressor mutants to characterize molecular cooperation with the vitamin D receptor in promoting the mammalian hair cycle.

Journal Of Cellular Biochemistry

Hsieh, Jui-Cheng JC; Slater, Stephanie A SA; Whitfield, G Kerr GK; Dawson, Jamie L JL; Hsieh, Grace G; Sheedy, Craig C; Haussler, Carol A CA; Haussler, Mark R MR

Publication Date: 2010-06-01

Variant appearance in text: HR: D1012N

PubMed Link: 20512927

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Hairless is a nuclear receptor corepressor essential for skin function.

Nuclear Receptor Signaling

Thompson, Catherine C CC

Publication Date: 2009-12-31

Variant appearance in text: HR: D1012N

PubMed Link: 20087431

Variant Present in the following documents:

• Main text
• nrs07010000.pdf

View BVdb publication page

---

Mutations in the hairless gene underlie APL in three families of Pakistani origin.

Journal Of Dermatological Science

Kraemer, Liv L; Wajid, Muhammad M; Shimomura, Yutaka Y; Christiano, Angela M AM

Publication Date: 2008-04

Variant appearance in text: HR: D1012N

PubMed Link: 18164595

Variant Present in the following documents:

• Main text

View BVdb publication page

---