Varaico: Literature-Extracted Genetic Variants

Gene:GRHL3
Variant:p.T454M
Back to variants list

GRHL3

NM_198173.3:p.T454M

Associated Papers

Functional variant at 19q13.3 confers nonsyndromic cleft palate susceptibility by regulating HIF3A.

Lou S et al.

Iscience, 2025

Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.

Zhu S et al.

Human Mutation, 2025

40918684 (PubMed )
Supplement: 6824122.f5.xlsx › Table_S5

High incidence and geographic distribution of cleft palate in Finland are associated with the IRF6 gene.

Rahimov F et al.

Nature Communications, 2024

High incidence and geographic distribution of cleft palate cases in Finland are associated with a regulatory variant in IRF6.

Rahimov F et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Two rare variants reveal the significance of Grainyhead-like 3 Arginine 391 underlying non-syndromic cleft palate only.

Huang W et al.

Oral Diseases, 2023

Identification of Novel Risk Variants of Non-Syndromic Cleft Palate by Targeted Gene Panel Sequencing.

Dąbrowska J et al.

Journal of Clinical Medicine, 2023

Novel GRHL3 Variants in a South African Cohort With Cleft Lip and Palate.

Naicker T et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2022

Reactivation of a developmental Bmp2 signaling center is required for therapeutic control of the murine periosteal niche.

Salazar VS et al.

Elife, 2019

Threonine 454 phosphorylation in Grainyhead-like 3 is important for its function and regulation by the p38 MAPK pathway.

Krzywinska E et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2018

Association between a common missense variant in LOXL3 gene and the risk of non-syndromic cleft palate.

Khan MFJ et al.

Congenital Anomalies, 2018

Structural basis of gene regulation by the Grainyhead/CP2 transcription factor family.

Ming Q et al.

Nucleic Acids Research, 2018

Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate.

Eshete MA et al.

Journal of Dental Research, 2018

Grainyhead-like Transcription Factors in Craniofacial Development.

Carpinelli MR et al.

Journal of Dental Research, 2017

The Role of Noncoding Genetic Variation in Isolated Orofacial Clefts.

Thieme F et al.

Journal of Dental Research, 2017

A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.

Leslie EJ et al.

American Journal of Human Genetics, 2016

Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.

Mangold E et al.

American Journal of Human Genetics, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."