Publications:

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Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.

Genes

Underwood, Adam A; Rasicci, Daniel T DT; Hinds, David D; Mitchell, Jackson T JT; Zieba, Jacob K JK; Mills, Joshua J; Arnold, Nicholas E NE; Cook, Taylor W TW; Moustaqil, Mehdi M; Gambin, Yann Y; Sierecki, Emma E; Fontaine, Frank F; Vanderweele, Sophie S; Das, Akansha S AS; Cvammen, William W; Sirpilla, Olivia O; Soehnlen, Xavier X; Bricker, Kristen K; Alokaili, Maram M; Green, Morgan M; Heeringa, Sadie S; Wilstermann, Amy M AM; Freeland, Thomas M TM; Qutob, Dinah D; Milsted, Amy A; Jauch, Ralf R; Triche, Timothy J TJ; Krawczyk, Connie M CM; Bupp, Caleb P CP; Rajasekaran, Surender S; Francois, Mathias M; Prokop, Jeremy W JW

Publication Date: 2023-01-14

Variant appearance in text: SOX9: H165Y

PubMed Link: 36672963

Variant Present in the following documents:

• genes-14-00222.pdf

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Flavin Adenine Dinucleotide (FAD) and Pyridoxal 5'-Phosphate (PLP) Bind to Sox9 and Alter the Expression of Key Pancreatic Progenitor Transcription Factors.

International Journal Of Molecular Sciences

Islam, Zeyaul Z; Aldous, Noura N; Choi, Sunkyu S; Schmidt, Frank F; Mifsud, Borbala B; Abdelalim, Essam M EM; Kolatkar, Prasanna R PR

Publication Date: 2022-11-14

Variant appearance in text: SOX9: H165Y

PubMed Link: 36430529

Variant Present in the following documents:

• Main text
• ijms-23-14051.pdf

View BVdb publication page

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Sorting Sox: Diverse Roles for Sox Transcription Factors During Neural Crest and Craniofacial Development.

Frontiers In Physiology

Schock, Elizabeth N EN; LaBonne, Carole C

Publication Date: 2020

Variant appearance in text: SOX9: H165Y

PubMed Link: 33424631

Variant Present in the following documents:

• fphys-11-606889.pdf

View BVdb publication page

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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: CMD1: H165Y; rs28940282

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: SOX9: H165Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations.

Genetics And Molecular Biology

Mattos, Eduardo P EP; Sanseverino, Maria Teresa V MT; Magalhães, José Antônio A JA; Leite, Júlio César L JC; Félix, Temis Maria TM; Todeschini, Luiz Alberto LA; Cavalcanti, Denise P DP; Schüler-Faccini, Lavinia L

Publication Date: 2015-03

Variant appearance in text: SOX9: 493C>T; H165Y

PubMed Link: 25983619

Variant Present in the following documents:

• 1415-4757-gmb-38-1-14-suppl03.pdf

View BVdb publication page

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