Genetics and signaling mechanisms of orofacial clefts

K Reynolds, S Zhang, B Sun, MA Garland… - Birth defects …, 2020 - Wiley Online Library
Craniofacial development involves several complex tissue movements including several
fusion processes to form the frontonasal and maxillary structures, including the upper lip and …

New insights into craniofacial malformations

SRF Twigg, AOM Wilkie - Human molecular genetics, 2015 - academic.oup.com
Abstract Development of the human skull and face is a highly orchestrated and complex
three-dimensional morphogenetic process, involving hundreds of genes controlling the …

Language impairments in ASD resulting from a failed domestication of the human brain

A Benítez-Burraco, W Lattanzi, E Murphy - Frontiers in Neuroscience, 2016 - frontiersin.org
Autism spectrum disorders (ASD) are pervasive neurodevelopmental disorders entailing
social and cognitive deficits, including marked problems with language. Numerous genes …

[PDF][PDF] Main genetic entities associated with supernumerary teeth

F Cammarata-Scalisi, A Avendaño… - Arch Argent …, 2018 - SciELO Argentina
Supernumerary teeth represent a common human dental anomaly, defined as presence of
extra teeth-more than the normal number foreseen in primary or permanent dentition. The …

Update on 13 syndromes affecting craniofacial and dental structures

TN Bartzela, C Carels, JC Maltha - Frontiers in physiology, 2017 - frontiersin.org
Care of individuals with syndromes affecting craniofacial and dental structures are mostly
treated by an interdisciplinary team from early childhood on. In addition to medical and …

Etiologies of uterine malformations

A Jacquinet, D Millar, A Lehman - American Journal of Medical …, 2016 - Wiley Online Library
Ranging from aplastic uterus (including Mayer–Rokitansky–Kuster–Hauser syndrome) to
incomplete septate uterus, uterine malformations as a group are relatively frequent in the …

Zebrafish models of orofacial clefts

KM Duncan, K Mukherjee, RA Cornell… - Developmental …, 2017 - Wiley Online Library
Zebrafish is a model organism that affords experimental advantages toward investigating the
normal function of genes associated with congenital birth defects. Here we summarize …

Identification of candidate genes for Mayer-Rokitansky-Küster-Hauser syndrome using genomic approaches

B Backhouse, C Hanna, G Robevska… - Sexual …, 2019 - karger.com
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder of sex development which
affects 1 in 4,500 females and is characterized by agenesis of müllerian structures, including …

SPECC1L deficiency results in increased adherens junction stability and reduced cranial neural crest cell delamination

NR Wilson, AJ Olm-Shipman, DS Acevedo… - Scientific reports, 2016 - nature.com
Cranial neural crest cells (CNCCs) delaminate from embryonic neural folds and migrate to
pharyngeal arches, which give rise to most mid-facial structures. CNCC dysfunction plays a …

[PDF][PDF] The MID1 protein is a central player during development and in disease

J Winter, MF Basilicata, MP Stemmler… - … Biosci (Landmark Ed), 2016 - article.imrpress.com
Loss-of-function mutations in the MID1 gene cause a rare monogenic disorder, Opitz BBB/G
syndrome (OS), which is characterized by malformations of the ventral midline. The MID1 …