A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele

Z Crane-Smith, SCP De Castro… - Human Molecular …, 2023 - academic.oup.com
Orofacial clefts, including cleft lip and palate (CL/P) and neural tube defects (NTDs) are
among the most common congenital anomalies, but knowledge of the genetic basis of these …

A genome-wide association study of nonsyndromic cleft palate identifies an etiologic missense variant in GRHL3

EJ Leslie, H Liu, JC Carlson, JR Shaffer… - The American Journal of …, 2016 - cell.com
Cleft palate (CP) is a common birth defect occurring in 1 in 2,500 live births. Approximately
half of infants with CP have a syndromic form, exhibiting other physical and cognitive …

Rare deleterious variants in GRHL3 are associated with human spina bifida

P Lemay, P De Marco, A Emond… - Human …, 2017 - Wiley Online Library
Neural tube defects, including spina bifida, are among the most common birth defects
caused by failure of neural tube closure during development. They have a complex etiology …

Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice

SCP De Castro, P Gustavsson… - Human molecular …, 2018 - academic.oup.com
The genetic basis of human neural tube defects (NTDs), such as anencephaly and spina
bifida (SB), is complex and heterogeneous. Grainyhead-like genes represent candidates for …

Loss-of-function GRHL3 variants detected in African patients with isolated cleft palate

MA Eshete, H Liu, M Li, WL Adeyemo… - Journal of dental …, 2018 - journals.sagepub.com
In contrast to the progress that has been made toward understanding the genetic etiology of
cleft lip with or without cleft palate, relatively little is known about the genetic etiology for cleft …

Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome

G Petrof, A Nanda, J Howden, T Takeichi… - The American Journal of …, 2014 - cell.com
Grainyhead-like 2, encoded by GRHL2, is a member of a highly conserved family of
transcription factors that play essential roles during epithelial development …

Sequencing the GRHL3 coding region reveals rare truncating mutations and a common susceptibility variant for nonsyndromic cleft palate

E Mangold, AC Böhmer, N Ishorst, AK Hoebel… - The American Journal of …, 2016 - cell.com
Nonsyndromic cleft lip with/without cleft palate (nsCL/P) and nonsyndromic cleft palate only
(nsCPO) are the most frequent subphenotypes of orofacial clefts. A common syndromic form …

Over-expression of Grhl2 causes spina bifida in the Axial defects mutant mouse

MR Brouns, SCP De Castro… - Human molecular …, 2011 - academic.oup.com
Cranial neural tube defects (NTDs) occur in mice carrying mutant alleles of many different
genes, whereas isolated spinal NTDs (spina bifida) occur in fewer models, despite being …

Interrogating the Grainyhead-like 2 (Grhl2) genomic locus identifies an enhancer element that regulates palatogenesis in mouse

M de Vries, M Carpinelli, E Rutland, A Hatzipantelis… - Developmental …, 2020 - Elsevier
The highly-conserved Grainyhead-like (Grhl) transcription factors are critical regulators of
embryogenesis that regulate cellular survival, proliferation, migration and epithelial integrity …

Lack of Association between Missense Variants in GRHL3 (rs2486668 and rs545809) and Susceptibility to Non-Syndromic Orofacial Clefts in a Han Chinese …

M He, Z Bian - PLoS One, 2016 - journals.plos.org
Background Grainyhead-like-3 (GRHL3) was recently identified as the second gene that,
when mutated, can lead s to Van der Woude syndrome, which is characterized by orofacial …