Publications:

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: NOS1AP: 178-101C>G; rs10800405

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs10800405

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: rs10800405

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs10800405

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls.

Bmc Medical Genetics

Delorme, Richard R; Betancur, Catalina C; Scheid, Isabelle I; Anckarsäter, Henrik H; Chaste, Pauline P; Jamain, Stéphane S; Schuroff, Franck F; Nygren, Gudrun G; Herbrecht, Evelyn E; Dumaine, Anne A; Mouren, Marie Christine MC; Råstam, Maria M; Leboyer, Marion M; Gillberg, Christopher C; Bourgeron, Thomas T

Publication Date: 2010-07-05

Variant appearance in text: rs10800405

PubMed Link: 20602773

Variant Present in the following documents:

• Main text
• 1471-2350-11-108.pdf

View BVdb publication page

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Evidence for a role of the NOS1AP (CAPON) gene in schizophrenia and its clinical dimensions: an association study in a South American population isolate.

Human Heredity

Kremeyer, Barbara B; García, Jenny J; Kymäläinen, Hanna H; Wratten, Naomi N; Restrepo, Gabriel G; Palacio, Carlos C; Miranda, Ana Lucía AL; López, Carlos C; Restrepo, Margarita M; Bedoya, Gabriel G; Brzustowicz, Linda M LM; Ospina-Duque, Jorge J; Arbeláez, María Patricia MP; Ruiz-Linares, Andrés A

Publication Date: 2009

Variant appearance in text: rs10800405

PubMed Link: 19077434

Variant Present in the following documents:

• Main text

View BVdb publication page

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