Genetics of cleft lip and cleft palate

EJ Leslie, ML Marazita - … Journal of Medical Genetics Part C …, 2013 - Wiley Online Library
Orofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or
as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with …

The genetics of isolated orofacial clefts: from genotypes to subphenotypes

A Jugessur, PG Farlie, N Kilpatrick - Oral diseases, 2009 - Wiley Online Library
Orofacial clefts are the most common craniofacial birth defects and one of the most common
congenital malformations in humans. They require complex multidisciplinary treatment and …

Characterising the loss-of-function impact of 5'untranslated region variants in 15,708 individuals

N Whiffin, KJ Karczewski, X Zhang, S Chothani… - Nature …, 2020 - nature.com
Upstream open reading frames (uORFs) are tissue-specific cis-regulators of protein
translation. Isolated reports have shown that variants that create or disrupt uORFs can cause …

Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development

M Peyrard-Janvid, EJ Leslie, YA Kousa… - The American Journal of …, 2014 - cell.com
Mutations in interferon regulatory factor 6 (IRF6) account for∼ 70% of cases of Van der
Woude syndrome (VWS), the most common syndromic form of cleft lip and palate. In 8 of 45 …

Wnt signaling in orofacial clefts: crosstalk, pathogenesis and models

K Reynolds, P Kumari… - Disease models & …, 2019 - journals.biologists.com
Diverse signaling cues and attendant proteins work together during organogenesis,
including craniofacial development. Lip and palate formation starts as early as the fourth …

Genetics of syndromic and nonsyndromic cleft lip and palate

L Stuppia, M Capogreco, G Marzo… - Journal of …, 2011 - journals.lww.com
Cleft of the lip with or without cleft palate (CL/P) represents one of the commonest congenital
malformations in Western countries. Based on their association with specific malformative …

Skeletal malocclusion: a developmental disorder with a life-long morbidity

N Joshi, AM Hamdan… - Journal of clinical …, 2014 - pmc.ncbi.nlm.nih.gov
The likelihood of birth defects in orofacial tissues is high due to the structural and
developmental complexity of the face and the susceptibility to intrinsic and extrinsic …

Programmed RNA editing with an evolved bacterial adenosine deaminase

H Yan, W Tang - Nature Chemical Biology, 2024 - nature.com
Programmed RNA editing presents an attractive therapeutic strategy for genetic disease. In
this study, we developed bacterial deaminase-enabled recoding of RNA (DECOR), which …

Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice

HA Thomason, H Zhou, EN Kouwenhoven… - The Journal of clinical …, 2010 - jci.org
Cleft palate is a common congenital disorder that affects up to 1 in 2,500 live human births
and results in considerable morbidity to affected individuals and their families. The etiology …

Tooth agenesis and orofacial clefting: genetic brothers in arms?

M Phan, F Conte, KD Khandelwal, CW Ockeloen… - Human genetics, 2016 - Springer
Tooth agenesis and orofacial clefts represent the most common developmental anomalies
and their co-occurrence is often reported in patients as well in animal models. The aim of the …