New insights into craniofacial morphogenesis

JA Helms, D Cordero, MD Tapadia - 2005 - journals.biologists.com
No region of our anatomy more powerfully conveys our emotions nor elicits more profound
reactions when disease or genetic disorders disfigure it than the face. Recent progress has …

Hedgehog signaling update

MM Cohen Jr - American Journal of Medical Genetics Part A, 2010 - Wiley Online Library
In vertebrate hedgehog signaling, hedgehog ligands are processed to become bilipidated
and then multimerize, which allows them to leave the signaling cell via Dispatched 1 and …

Solitary median maxillary central incisor (SMMCI) syndrome

RK Hall - Orphanet journal of rare diseases, 2006 - Springer
Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder
consisting of multiple, mainly midline defects of development resulting from unknown factor …

[HTML][HTML] Unique organization of the frontonasal ectodermal zone in birds and mammals

D Hu, RS Marcucio - Developmental biology, 2009 - Elsevier
The faces of birds and mammals exhibit remarkable morphologic diversity, but how variation
arises is not well-understood. We have previously demonstrated that a region of facial …

Fetal ethanol exposure activates protein kinase a and impairs Shh expression in prechordal mesendoderm cells in the pathogenesis of holoprosencephaly

K Aoto, Y Shikata, D Higashiyama… - … Research Part A …, 2008 - Wiley Online Library
BACKGROUND: In humans, fetal ethanol exposure can cause holoprosencephaly (HPE),
one of the most common birth defects that is characterized by brain, facial, and oral …

Palate morphogenesis: current understanding and future directions

RM Greene, MM Pisano - Birth Defects Research Part C …, 2010 - Wiley Online Library
In the past, most scientists conducted their inquiries of nature via inductivism, the patient
accumulation of “pieces of information” in the pious hope that the sum of the parts would …

The mutational spectrum of holoprosencephaly‐associated changes within the SHH gene in humans predicts loss‐of‐function through either key structural alterations …

E Roessler, KB El‐Jaick, C Dubourg, JI Vélez… - Human …, 2009 - Wiley Online Library
Mutations within either the SHH gene or its related pathway components are the most
common, and best understood, pathogenetic changes observed in holoprosencephaly …

Functional characterization of sonic hedgehog mutations associated with holoprosencephaly

E Traiffort, C Dubourg, H Faure, D Rognan… - Journal of Biological …, 2004 - ASBMB
Mutations of the developmental gene Sonic hedgehog (SHH) and alterations of SHH
signaling have been associated with holoprosencephaly (HPE), a rare disorder …

Functional analysis of mutations in TGIF associated with holoprosencephaly

KB El-Jaick, SE Powers, L Bartholin, KR Myers… - Molecular genetics and …, 2007 - Elsevier
Holoprosencephaly (HPE) is the most common structural malformation of the forebrain and
face in humans. Our current understanding of the pathogenesis of HPE attempts to integrate …

Solitary median maxillary central incisor syndrome: an exploration of the pathogenic mechanism

J Li, D Liu, Y Liu, C Zhang, S Zheng - Frontiers in Genetics, 2022 - frontiersin.org
This study aimed to identify the genetic cause of one Chinese family with solitary median
maxillary central incisor (SMMCI) and explore the relationship between genotype and its …