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: 1007T>G; Met336Arg

PubMed Link: 37240249

Variant Present in the following documents:

• ijms-24-08904.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: 1007T>G

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: M336R

PubMed Link: 33759783

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report.

Bmc Pediatrics

Bajaj, Shruti S; Nabi, Fazal F; Shah, Jhanvi J; Sheth, Harsh H

Publication Date: 2021-03-06

Variant appearance in text: FAM20C: 1007T>G; M336R

PubMed Link: 33676444

Variant Present in the following documents:

• Main text
• 12887_2021_Article_2582.pdf

View BVdb publication page

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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: 1007T>G

PubMed Link: 32337609

Variant Present in the following documents:

• 223_2020_Article_694.pdf

View BVdb publication page

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Two Novel FAM20C Variants in A Family with Raine Syndrome.

Genes

Hernández-Zavala, Araceli A; Cortés-Camacho, Fernando F; Palma Lara, Icela I; Godinez-Aguilar, Ricardo R; Espinosa-García, Ana María AM; Pérez-Durán, Javier J; Villanueva-Ocampo, Patricia P; Ugarte-Briones, Carlos C; Serrano-Bello, Carlos Alberto CA; Sanchez-Santiago, Paula P; Bonilla-Delgado, José J; Yañez-López, Marco Antonio MA; Victoria-Acosta, Georgina G; López-Ornelas, Adolfo A; García Alonso-Themann, Patricia P; Moreno, José J; Palacios-Reyes, Carmen C

Publication Date: 2020-02-20

Variant appearance in text: FAM20C: 1007T>G; Met336Arg

PubMed Link: 32093234

Variant Present in the following documents:

• Main text
• genes-11-00222.pdf

View BVdb publication page

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