Literature DB >> 11389462

Genetics of craniofacial development and malformation.

A O Wilkie1, G M Morriss-Kay.   

Abstract

The head is anatomically the most sophisticated part of the body and its evolution was fundamental to the origin of vertebrates; understanding its development is a formidable problem in biology. A synthesis of embryology, evolution and mouse genetics is shaping our understanding of head development and in this review we discuss its application to studies of human craniofacial malformations. Many of these disorders have their origins in specific embryological processes, including abnormalities of brain patterning, of the migration and fusion of tissues in the face, and of bone differentiation in the skull vault.

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Year:  2001        PMID: 11389462     DOI: 10.1038/35076601

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN: 1471-0056            Impact factor:   53.242


  119 in total

Review 1.  Genetic disorders of the skeleton: a developmental approach.

Authors:  Uwe Kornak; Stefan Mundlos
Journal:  Am J Hum Genet       Date:  2003-07-31       Impact factor: 11.025

2.  Alx4 and Msx2 play phenotypically similar and additive roles in skull vault differentiation.

Authors:  Ileana Antonopoulou; Lampros A Mavrogiannis; Andrew O M Wilkie; Gillian M Morriss-Kay
Journal:  J Anat       Date:  2004-06       Impact factor: 2.610

Review 3.  Adult craniofacial stem cells: sources and relation to the neural crest.

Authors:  Barbara Kaltschmidt; Christian Kaltschmidt; Darius Widera
Journal:  Stem Cell Rev Rep       Date:  2012-09       Impact factor: 5.739

4.  The balance of WNT and FGF signaling influences mesenchymal stem cell fate during skeletal development.

Authors:  Takamitsu Maruyama; Anthony J Mirando; Chu-Xia Deng; Wei Hsu
Journal:  Sci Signal       Date:  2010-05-25       Impact factor: 8.192

5.  Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

Authors:  Hyung-Goo Kim; Hyun-Taek Kim; Natalia T Leach; Fei Lan; Reinhard Ullmann; Asli Silahtaroglu; Ingo Kurth; Anja Nowka; Ihn Sik Seong; Yiping Shen; Michael E Talkowski; Douglas Ruderfer; Ji-Hyun Lee; Caron Glotzbach; Kyungsoo Ha; Susanne Kjaergaard; Alex V Levin; Bernd F Romeike; Tjitske Kleefstra; Oliver Bartsch; Sarah H Elsea; Ethylin Wang Jabs; Marcy E MacDonald; David J Harris; Bradley J Quade; Hans-Hilger Ropers; Lisa G Shaffer; Kerstin Kutsche; Lawrence C Layman; Niels Tommerup; Vera M Kalscheuer; Yang Shi; Cynthia C Morton; Cheol-Hee Kim; James F Gusella
Journal:  Am J Hum Genet       Date:  2012-07-05       Impact factor: 11.025

6.  Distinct Caenorhabditis elegans HLH-8/twist-containing dimers function in the mesoderm.

Authors:  Mary C Philogene; Stephany G Meyers Small; Peng Wang; Ann K Corsi
Journal:  Dev Dyn       Date:  2012-01-31       Impact factor: 3.780

7.  Craniosynostosis caused by Axin2 deficiency is mediated through distinct functions of beta-catenin in proliferation and differentiation.

Authors:  Bo Liu; Hsiao-Man Ivy Yu; Wei Hsu
Journal:  Dev Biol       Date:  2006-10-21       Impact factor: 3.582

8.  A whole-genome scan for 24-hour respiration rate: a major locus at 10q26 influences respiration during sleep.

Authors:  E J C de Geus; D Posthuma; N Kupper; M van den Berg; G Willemsen; A L Beem; P E Slagboom; D I Boomsma
Journal:  Am J Hum Genet       Date:  2004-11-19       Impact factor: 11.025

Review 9.  Facial surface analysis by 3D laser scanning and geometric morphometrics in relation to sexual dimorphism in cerebral--craniofacial morphogenesis and cognitive function.

Authors:  Robin J Hennessy; Stephen McLearie; Anthony Kinsella; John L Waddington
Journal:  J Anat       Date:  2005-09       Impact factor: 2.610

10.  Central nervous system phenotypes in craniosynostosis.

Authors:  Kristina Aldridge; Jeffrey L Marsh; Daniel Govier; Joan T Richtsmeier
Journal:  J Anat       Date:  2002-07       Impact factor: 2.610

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