Publications:

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: 915C>A; Tyr305*

PubMed Link: 37240249

Variant Present in the following documents:

• ijms-24-08904.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: 915C>A

PubMed Link: 34360805

Variant Present in the following documents:

• Main text
• ijms-22-08039.pdf

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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: Y305X

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: 915C>A

PubMed Link: 32337609

Variant Present in the following documents:

• 223_2020_Article_694.pdf

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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: 915C>A; Y305X

PubMed Link: 29751744

Variant Present in the following documents:

• Main text
• 12881_2018_Article_593.pdf

View BVdb publication page