Microtia: epidemiology and genetics

DV Luquetti, CL Heike, AV Hing… - American Journal of …, 2012 - Wiley Online Library
Microtia is a congenital anomaly of the ear that ranges in severity from mild structural
abnormalities to complete absence of the ear, and can occur as an isolated birth defect or as …

The development of the mammalian outer and middle ear

N Anthwal, H Thompson - Journal of anatomy, 2016 - Wiley Online Library
The mammalian ear is a complex structure divided into three main parts: the outer; middle;
and inner ear. These parts are formed from all three germ layers and neural crest cells …

[HTML][HTML] Human HOX gene disorders

SC Quinonez, JW Innis - Molecular genetics and metabolism, 2014 - Elsevier
The Hox genes are an evolutionarily conserved family of genes, which encode a class of
important transcription factors that function in numerous developmental processes …

Genetics of microtia and associated syndromes

F Alasti, G Van Camp - Journal of medical genetics, 2009 - jmg.bmj.com
Microtia is a congenital anomaly, characterised by a small, abnormally shaped auricle
(pinna). It is usually accompanied by a narrow, blocked or absent ear canal. Microtia can …

[HTML][HTML] The genetics of auricular development and malformation: new findings in model systems driving future directions for microtia research

TC Cox, ED Camci, S Vora, DV Luquetti… - European journal of …, 2014 - Elsevier
Microtia is a term used to describe a wide array of phenotypic presentations of the outer ear.
Although the majority of the cases are isolated in nature, much of our understanding of the …

Mouse Hoxa2 mutations provide a model for microtia and auricle duplication

M Minoux, CF Kratochwil, S Ducret, S Amin… - …, 2013 - journals.biologists.com
External ear abnormalities are frequent in newborns ranging from microtia to partial auricle
duplication. Little is known about the molecular mechanisms orchestrating external ear …

Neural crest contributions to the ear: implications for congenital hearing disorders

KE Ritter, DM Martin - Hearing research, 2019 - Elsevier
Congenital hearing disorders affect millions of children worldwide and can significantly
impact acquisition of speech and language. Efforts to identify the developmental genetic …

[HTML][HTML] Cochleovestibular nerve development is integrated with migratory neural crest cells

LL Sandell, NEB Tjaden, AJ Barlow, PA Trainor - Developmental biology, 2014 - Elsevier
The cochleovestibular (CV) nerve, which connects the inner ear to the brain, is the nerve that
enables the senses of hearing and balance. The aim of this study was to document the …

lncRNA HOTAIRM1 promotes osteogenesis of hDFSCs by epigenetically regulating HOXA2 via DNMT1 in vitro

Z Chen, J Zheng, H Hong, D Chen… - Journal of cellular …, 2020 - Wiley Online Library
Dental follicle (DF) can develop into periodontal tissues including periodontal ligament,
cementum, and alveolar bone. Possessing superior pluripotency and osteogenic capacity …

Genetic advances in the understanding of microtia

C Gendron, A Schwentker… - Journal of pediatric …, 2016 - thieme-connect.com
Microtia is a genetic condition affecting the external ears and presents clinically along a
wide spectrum: minimally affected ears are small with minor shape abnormalities; extremely …