Publications:

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Potential Role of Protein Kinase FAM20C on the Brain in Raine Syndrome, an In Silico Analysis.

International Journal Of Molecular Sciences

Palma-Lara, Icela I; García Alonso-Themann, Patricia P; Pérez-Durán, Javier J; Godínez-Aguilar, Ricardo R; Bonilla-Delgado, José J; Gómez-Archila, Damián D; Espinosa-García, Ana María AM; Nolasco-Quiroga, Manuel M; Victoria-Acosta, Georgina G; López-Ornelas, Adolfo A; Serrano-Bello, Juan Carlos JC; Olguín-García, María Guadalupe MG; Palacios-Reyes, Carmen C

Publication Date: 2023-05-17

Variant appearance in text: FAM20C: 1351G>A; Asp451Asn

PubMed Link: 37240249

Variant Present in the following documents:

• ijms-24-08904.pdf

View BVdb publication page

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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: D451N

PubMed Link: 34988120

Variant Present in the following documents:

• Main text
• fmolb-08-790172.pdf

View BVdb publication page

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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: 1351G>A

PubMed Link: 34360805

Variant Present in the following documents:

• Main text
• ijms-22-08039.pdf

View BVdb publication page

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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: D451N

PubMed Link: 33759783

Variant Present in the following documents:

• Main text

View BVdb publication page

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Natural history of non-lethal Raine syndrome during childhood.

Orphanet Journal Of Rare Diseases

Mameli, Chiara C; Zichichi, Giulia G; Mahmood, Nasim N; Elalaoui, Siham Chafai SC; Mirza, Adnan A; Dharmaraj, Poonam P; Burrone, Marco M; Cattaneo, Elisa E; Sheth, Jayesh J; Gandhi, Ajit A; Kochar, Gurpreet Singh GS; Alkuraya, Fowzan Sami FS; Kabra, Madhulika M; Mercurio, Giuseppe G; Zuccotti, Gianvincenzo G

Publication Date: 2020-04-16

Variant appearance in text: FAM20C: Asp451Asn

PubMed Link: 32299476

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1373.pdf

View BVdb publication page

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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: D451N

PubMed Link: 25862977

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: FAM20C: 1351G>A; D451N

PubMed Link: 24196488

Variant Present in the following documents:

• Main text

View BVdb publication page

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