Publications:

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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: FAM20A: G331D

PubMed Link: 33759783

Variant Present in the following documents:

• Main text

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: FAM20A: G331D

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

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Amelogenesis Imperfecta; Genes, Proteins, and Pathways.

Frontiers In Physiology

Smith, Claire E L CEL; Poulter, James A JA; Antanaviciute, Agne A; Kirkham, Jennifer J; Brookes, Steven J SJ; Inglehearn, Chris F CF; Mighell, Alan J AJ

Publication Date: 2017

Variant appearance in text: FAM20A: G331D

PubMed Link: 28694781

Variant Present in the following documents:

• Main text
• fphys-08-00435.pdf

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FAM20A binds to and regulates FAM20C localization.

Scientific Reports

Ohyama, Yoshio Y; Lin, Ju-Hsien JH; Govitvattana, Nattanan N; Lin, I-Ping IP; Venkitapathi, Sundharamani S; Alamoudi, Ahmed A; Husein, Dina D; An, Chunying C; Hotta, Hak H; Kaku, Masaru M; Mochida, Yoshiyuki Y

Publication Date: 2016-06-13

Variant appearance in text: FAM20A: G331D

PubMed Link: 27292199

Variant Present in the following documents:

• Main text
• srep27784.pdf

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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: FAM20A: G331D

PubMed Link: 25862977

Variant Present in the following documents:

• Main text

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Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations.

Orphanet Journal Of Rare Diseases

de la Dure-Molla, Muriel M; Quentric, Mickael M; Yamaguti, Paulo Marcio PM; Acevedo, Ana-Carolina AC; Mighell, Alan J AJ; Vikkula, Miikka M; Huckert, Mathilde M; Berdal, Ariane A; Bloch-Zupan, Agnes A

Publication Date: 2014-06-14

Variant appearance in text: FAM20A: 992G>A; Gly331Asp

PubMed Link: 24927635

Variant Present in the following documents:

• Main text
• 1750-1172-9-84.pdf

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FAM20A mutations associated with enamel renal syndrome.

Journal Of Dental Research

Wang, S K SK; Reid, B M BM; Dugan, S L SL; Roggenbuck, J A JA; Read, L L; Aref, P P; Taheri, A P H AP; Yeganeh, M Z MZ; Simmer, J P JP; Hu, J C-C JC

Publication Date: 2014-01

Variant appearance in text: FAM20A: G331D

PubMed Link: 24196488

Variant Present in the following documents:

• Main text

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FAM20A mutations can cause enamel-renal syndrome (ERS).

Plos Genetics

Wang, Shih-Kai SK; Aref, Parissa P; Hu, Yuanyuan Y; Milkovich, Rachel N RN; Simmer, James P JP; El-Khateeb, Mohammad M; Daggag, Hinda H; Baqain, Zaid H ZH; Hu, Jan C-C JC

Publication Date: 2013

Variant appearance in text: FAM20A: 992G>A; G331D

PubMed Link: 23468644

Variant Present in the following documents:

• Main text
• pgen.1003302.pdf

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