Publications:

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Fam20C in Human Diseases: Emerging Biological Functions and Therapeutic Implications.

Frontiers In Molecular Biosciences

Xu, Rongsheng R; Tan, Huidan H; Zhang, Jiahui J; Yuan, Zhaoxin Z; Xie, Qiang Q; Zhang, Lan L

Publication Date: 2021

Variant appearance in text: FAM20C: R408W

PubMed Link: 34988120

Variant Present in the following documents:

• Main text
• fmolb-08-790172.pdf

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FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes.

International Journal Of Molecular Sciences

Palma-Lara, Icela I; Pérez-Ramírez, Monserrat M; García Alonso-Themann, Patricia P; Espinosa-García, Ana María AM; Godinez-Aguilar, Ricardo R; Bonilla-Delgado, José J; López-Ornelas, Adolfo A; Victoria-Acosta, Georgina G; Olguín-García, María Guadalupe MG; Moreno, José J; Palacios-Reyes, Carmen C

Publication Date: 2021-07-27

Variant appearance in text: FAM20C: 1222C>T

PubMed Link: 34360805

Variant Present in the following documents:

• Main text
• ijms-22-08039.pdf

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Nonlethal Raine Syndrome in a Newborn Boy Caused by a Novel FAM20C Variant.

Molecular Syndromology

Eras, Nazan N; Celik, Yalcin Y

Publication Date: 2021-06

Variant appearance in text: FAM20C: 1222C>T; R408W

PubMed Link: 34177433

Variant Present in the following documents:

• Main text

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Single-Cell Transcriptome Analysis Uncovers Intratumoral Heterogeneity and Underlying Mechanisms for Drug Resistance in Hepatobiliary Tumor Organoids.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)

Zhao, Yan Y; Li, Zhi-Xuan ZX; Zhu, Yan-Jing YJ; Fu, Jing J; Zhao, Xiao-Fang XF; Zhang, Ya-Ni YN; Wang, Shan S; Wu, Jian-Min JM; Wang, Kai-Ting KT; Wu, Rui R; Sui, Cheng-Jun CJ; Shen, Si-Yun SY; Wu, Xuan X; Wang, Hong-Yang HY; Gao, Dong D; Chen, Lei L

Publication Date: 2021-06

Variant appearance in text: FAM20C: R408W

PubMed Link: 34105295

Variant Present in the following documents:

• ADVS-8-2003897-s001.xlsx, sheet 11
• ADVS-8-2003897-s001.xlsx, sheet 12

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: FAM20C: 1222C>T; Arg408Trp; rs1377083279

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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The ABCs of the atypical Fam20 secretory pathway kinases.

The Journal Of Biological Chemistry

Worby, Carolyn A CA; Mayfield, Joshua E JE; Pollak, Adam J AJ; Dixon, Jack E JE; Banerjee, Sourav S

Publication Date: 2021

Variant appearance in text: FAM20C: R408W

PubMed Link: 33759783

Variant Present in the following documents:

• Main text
• main.pdf

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A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age.

Calcified Tissue International

Eltan, Mehmet M; Alavanda, Ceren C; Yavas Abali, Zehra Z; Ergenekon, Pinar P; Yalındag Ozturk, Nilufer N; Sakar, Mustafa M; Dagcinar, Adnan A; Kirkgoz, Tarik T; Kaygusuz, Sare Betul SB; Gokdemir, Yasemin Y; Elcioglu, Huriye Nursel HN; Guran, Tulay T; Bereket, Abdullah A; Ata, Pinar P; Turan, Serap S

Publication Date: 2020-07

Variant appearance in text: FAM20C: 1222C>T

PubMed Link: 32337609

Variant Present in the following documents:

• 223_2020_Article_694.pdf

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Regulation of Fibroblast Growth Factor 23 by Iron, EPO, and HIF.

Current Molecular Biology Reports

Wheeler, Jonathan A JA; Clinkenbeard, Erica L EL

Publication Date: 2019-03

Variant appearance in text: FAM20C: R408W

PubMed Link: 31218207

Variant Present in the following documents:

• Main text

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A case of Raine syndrome presenting with facial dysmorphy and review of literature.

Bmc Medical Genetics

Sheth, Jayesh J; Bhavsar, Riddhi R; Gandhi, Ajit A; Sheth, Frenny F; Pancholi, Dhairya D

Publication Date: 2018-05-11

Variant appearance in text: FAM20C: 1222C>T; Arg408Trp

PubMed Link: 29751744

Variant Present in the following documents:

• Main text
• 12881_2018_Article_593.pdf

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Heritable and acquired disorders of phosphate metabolism: Etiologies involving FGF23 and current therapeutics.

Bone

Clinkenbeard, Erica L EL; White, Kenneth E KE

Publication Date: 2017-09

Variant appearance in text: FAM20C: R408W

PubMed Link: 28159712

Variant Present in the following documents:

• Main text

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The secretory pathway kinases.

Biochimica Et Biophysica Acta

Sreelatha, Anju A; Kinch, Lisa N LN; Tagliabracci, Vincent S VS

Publication Date: 2015-10

Variant appearance in text: FAM20C: R408W

PubMed Link: 25862977

Variant Present in the following documents:

• Main text

View BVdb publication page

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