Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs623580

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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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: rs623580

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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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs623580

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

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: rs623580

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Relationships of Ischemic Stroke Occurrence and Outcome with Gene Variants Encoding Enzymes of Tryptophan Metabolism.

Biomedicines

Boros, Fanni Annamária FA; Maszlag-Török, Rita R; Szűcs, Mónika M; Annus, Ádám Á; Klivényi, Péter P; Vécsei, László L

Publication Date: 2021-10-11

Variant appearance in text: rs623580

PubMed Link: 34680558

Variant Present in the following documents:

• Main text
• biomedicines-09-01441.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: rs623580

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Paternal indifference and neglect in early life and creativity: Exploring the moderating role of TPH1 genotype and offspring gender.

Plos One

Yu, Qi Q; Si, Si S; Zhang, Shun S; Zhang, Jinghuan J

Publication Date: 2020

Variant appearance in text: rs623580

PubMed Link: 32726303

Variant Present in the following documents:

• Main text
• pone.0221383.pdf

View BVdb publication page

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Variation of Genes Encoding Tryptophan Catabolites Pathway Enzymes in Stroke.

Journal Of Clinical Medicine

Wigner, Paulina P; Saluk-Bijak, Joanna J; Synowiec, Ewelina E; Miller, Elzbieta E; Sliwinski, Tomasz T; Cichon, Natalia N; Bijak, Michal M

Publication Date: 2019-12-03

Variant appearance in text: rs623580

PubMed Link: 31817010

Variant Present in the following documents:

• Main text
• jcm-08-02133-s001.pdf
• jcm-08-02133.pdf

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: rs623580

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Association between single nucleotide polymorphisms of TPH1 and TPH2 genes, and depressive disorders.

Journal Of Cellular And Molecular Medicine

Wigner, Paulina P; Czarny, Piotr P; Synowiec, Ewelina E; Bijak, Michał M; Białek, Katarzyna K; Talarowska, Monika M; Galecki, Piotr P; Szemraj, Janusz J; Sliwinski, Tomasz T

Publication Date: 2018-03

Variant appearance in text: rs623580

PubMed Link: 29314569

Variant Present in the following documents:

• Main text
• JCMM-22-1778.pdf

View BVdb publication page

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Serotonin as a New Therapeutic Target for Diabetes Mellitus and Obesity.

Diabetes & Metabolism Journal

Oh, Chang Myung CM; Park, Sangkyu S; Kim, Hail H

Publication Date: 2016-04

Variant appearance in text: rs623580

PubMed Link: 27126880

Variant Present in the following documents:

• Main text
• dmj-40-89.pdf

View BVdb publication page

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Epidemiological support for genetic variability at hypothalamic-pituitary-adrenal axis and serotonergic system as risk factors for major depression.

Neuropsychiatric Disease And Treatment

Ching-López, Ana A; Cervilla, Jorge J; Rivera, Margarita M; Molina, Esther E; McKenney, Kathryn K; Ruiz-Perez, Isabel I; Rodríguez-Barranco, Miguel M; Gutiérrez, Blanca B

Publication Date: 2015

Variant appearance in text: rs623580

PubMed Link: 26543368

Variant Present in the following documents:

• Main text
• ndt-11-2743.pdf

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Association of FKBP5 polymorphisms with suicidal events in the Treatment of Resistant Depression in Adolescents (TORDIA) study.

The American Journal Of Psychiatry

Brent, David D; Melhem, Nadine N; Ferrell, Robert R; Emslie, Graham G; Wagner, Karen Dineen KD; Ryan, Neal N; Vitiello, Benedetto B; Birmaher, Boris B; Mayes, Taryn T; Zelazny, Jamie J; Onorato, Matthew M; Devlin, Bernie B; Clarke, Greg G; DeBar, Lynn L; Keller, Marty M

Publication Date: 2010-02

Variant appearance in text: rs623580

PubMed Link: 20008943

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular genetics of the platelet serotonin system in first-degree relatives of patients with autism.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology

Cross, Sarah S; Kim, Soo-Jeong SJ; Weiss, Lauren A LA; Delahanty, Ryan J RJ; Sutcliffe, James S JS; Leventhal, Bennett L BL; Cook, Edwin H EH; Veenstra-Vanderweele, Jeremy J

Publication Date: 2008-01

Variant appearance in text: rs623580

PubMed Link: 17406648

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphism screening and haplotype analysis of the tryptophan hydroxylase gene (TPH1) and association with bipolar affective disorder in Taiwan.

Bmc Medical Genetics

Lai, Te-Jen TJ; Wu, Chia-Yen CY; Tsai, Hsu-Wen HW; Lin, Yi-Mei J YM; Sun, H Sunny HS

Publication Date: 2005-03-31

Variant appearance in text: rs623580

PubMed Link: 15799788

Variant Present in the following documents:

• Main text
• 1471-2350-6-14.pdf

View BVdb publication page

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