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Germ-line and somatic EPHA2 coding variants in lens aging and cataract

. Fielding Hejtmancik, Alan Shiels. Data curation: Thomas M. Bennett, Alan Shiels. Formal analysis: Thomas M. Bennett, Oussama M'Hamdi, J. Fielding Hejtmancik, Alan Shiels. Funding acquisition: Alan Shiels ... . Investigation: Thomas M. Bennett, Alan Shiels. Project administration: Alan Shiels. Resources: J. Fielding Hejtmancik, Alan Shiels. Supervision: J. Fielding Hejtmancik, Alan Shiels. Validation: Thomas M

Correction: Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts

Javed Akram Sheikh Riazuddin J. Fielding Hejtmancik S. Amer Riazuddin OPEN ACCESS 1. Jiaox X , Khan SY , Irum B , Khan AO , Wang Q , Kabir F , et al. ( 2015 ) Missense Mutations in CRYAB Are Liable

A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts

Purpose This study was performed to investigate the genetic determinants of autosomal recessive congenital cataracts in large consanguineous families. Methods Affected individuals underwent a detailed ophthalmological examination and slit-lamp photographs of the cataractous lenses were obtained. An aliquot of blood was collected from all participating family members and genomic DNA ...

Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts

Purpose This study was initiated to identify causal mutations responsible for autosomal recessive congenital cataracts in consanguineous familial cases. Methods Affected individuals underwent a detailed ophthalmological and clinical examination, and slit-lamp photographs were ascertained for affected individuals who have not yet been operated for the removal of the cataractous ...

Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing

Purpose To define the molecular basis of retinal degeneration in consanguineous Pakistani pedigrees with early onset retinal degeneration. Methods A cohort of 277 individuals representing 26 pedigrees from the Punjab province of Pakistan was analyzed. Exomes were captured with commercial kits and sequenced on an Illumina HiSeq 2500. Candidate variants were identified using standard ...

A Novel MIP Gene Mutation Analysis in a Chinese Family Affected with Congenital Progressive Punctate Cataract

Congenital cataracts are one of the leading causes of visual impairment and blindness in children, and genetic factors play an important role in their development. This study aimed to identify the genetic defects associated with autosomal dominant congenital progressive punctate cataracts in a Chinese family and to explore the potential pathogenesis. Detailed family history and ...

CDKN2B Polymorphism Is Associated with Primary Open-Angle Glaucoma (POAG) in the Afro-Caribbean Population of Barbados, West Indies

The purpose of this study was to confirm previously reported associations of common variants in or near CDC7/TGFBR3, ZP4, SRBD1, ELOVL5, CAV1/CAV2, TLR4, CDKN2B, CDKN2B-AS1, ATOH7, PLXDC2, TMTC2, SIX1, and CARD10, with primary open angle glaucoma (POAG) in the Afro-Caribbean population of Barbados, West Indies. A total of 437 unrelated subjects from the Barbados Family Study of ...

Functional Validation of Hydrophobic Adaptation to Physiological Temperature in the Small Heat Shock Protein αA-crystallin

Small heat shock proteins (sHsps) maintain cellular homeostasis by preventing stress and disease-induced protein aggregation. While it is known that hydrophobicity impacts the ability of sHsps to bind aggregation-prone denaturing proteins, the complex quaternary structure of globular sHsps has made understanding the significance of specific changes in hydrophobicity difficult. Here ...

Association analysis of nine candidate gene polymorphisms in Indian patients with type 2 diabetic retinopathy

Background Diabetic retinopathy (DR) is classically defined as a microvasculopathy that primarily affects the small blood vessels of the inner retina as a complication of diabetes mellitus (DM).It is a multifactorial disease with a strong genetic component. The aim of this study is to investigate the association of a set of nine candidate genes with the development of diabetic ...

Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis

Hejtmancik 0 Amanda Ewart Toland, Ohio State University Medical Center, United States of America 0 1 State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University , Guangzhou

Localization of the Usher Syndrome Type ID Gene (Ush1D) to Chromosome 10

The Usher syndromes (USH) are a group of autosomal recessive diseases characterized by progressive pigmentary retinopathy and sensorineural hearing loss. Five USH genes have been mapped and at least one additional gene is known to exist. By homozygosity mapping in a consanguineous family, a sixth USH gene has been localized. Clinical findings in the four affected children are ...