Mutations and mechanisms in congenital and age-related cataracts

A Shiels, JF Hejtmancik - Experimental eye research, 2017 - Elsevier
The crystalline lens plays an important role in the refractive vision of vertebrates by
facilitating variable fine focusing of light onto the retina. Loss of lens transparency, or …

Pediatric cataract: challenges and future directions

A Medsinge, KK Nischal - Clinical ophthalmology, 2015 - Taylor & Francis
Cataract is a significant cause of visual disability in the pediatric population worldwide and
can significantly impact the neurobiological development of a child. Early diagnosis and …

Biology of inherited cataracts and opportunities for treatment

A Shiels, JF Hejtmancik - Annual review of vision science, 2019 - annualreviews.org
Cataract, the clinical correlate of opacity or light scattering in the eye lens, is usually caused
by the presence of high-molecular-weight (HMW) protein aggregates or disruption of the …

Congenital cataracts and their molecular genetics

JF Hejtmancik - Seminars in cell & developmental biology, 2008 - Elsevier
Cataract can be defined as any opacity of the crystalline lens. Congenital cataract is
particularly serious because it has the potential for inhibiting visual development, resulting in …

Inherited cataracts: Genetic mechanisms and pathways new and old

A Shiels, JF Hejtmancik - Experimental eye research, 2021 - Elsevier
Cataract (s) is the clinical equivalent of lens opacity and is caused by light scattering either
by high molecular weight protein aggregates in lens cells or disruption of the lens …

Syndromes with supernumerary teeth

M Lubinsky, PN Kantaputra - American Journal of Medical …, 2016 - Wiley Online Library
While most supernumerary teeth are idiopathic, they can be associated with a number of
Mendelian syndromes. However, this can also be a coincidental finding, since …

The epidemiology of supernumerary teeth and the associated molecular mechanism

X Lu, F Yu, J Liu, W Cai, Y Zhao, S Zhao, S Liu - Organogenesis, 2017 - Taylor & Francis
Supernumerary teeth are common clinical dental anomalies. Although various studies have
provided abundant information regarding genes and signaling pathways involved in tooth …

Diseases of the tooth: the genetic and molecular basis of inherited anomalies affecting the dentition

MT Cobourne, PT Sharpe - Wiley Interdisciplinary Reviews …, 2013 - Wiley Online Library
In humans, inherited variation in the number, size, and shape of teeth within the dentitions
are relatively common, while rarer defects of hard tissue formation, including amelogenesis …

Aetiology of supernumerary teeth: a literature review

RP Anthonappa, NM King, ABM Rabie - European Archives of Paediatric …, 2013 - Springer
Background Supernumerary teeth are teeth, or tooth-like structures that have either erupted
or remain unerupted in addition to the 20 primary and 32 permanent teeth. Aims This paper …

[HTML][HTML] Genetic diseases of junctions

JE Lai-Cheong, K Arita, JA McGrath - Journal of Investigative Dermatology, 2007 - Elsevier
Tight junctions, gap junctions, adherens junctions, and desmosomes represent intricate
structural intercellular channels and bridges that are present in several tissues, including …