Cargando…

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 affec...

Descripción completa

Detalles Bibliográficos
Autores principales:	Jiaox, Xiaodong, Khan, Shahid Y., Irum, Bushra, Khan, Arif O., Wang, Qiwei, Kabir, Firoz, Khan, Asma A., Husnain, Tayyab, Akram, Javed, Riazuddin, Sheikh, Hejtmancik, J. Fielding, Riazuddin, S. Amer
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4581838/ https://www.ncbi.nlm.nih.gov/pubmed/26402864 http://dx.doi.org/10.1371/journal.pone.0137973

Ejemplares similares

Correction: Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts
por: Jiao, Xiaodong, et al.
Publicado: (2017)

A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts
por: Jiao, Xiaodong, et al.
Publicado: (2016)

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts
por: Irum, Bushra, et al.
Publicado: (2022)

Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts
por: Irum, Bushra, et al.
Publicado: (2016)

Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts
por: Irum, Bushra, et al.
Publicado: (2016)

Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts
por: Irum, Bushra, et al.
Publicado: (2017)

A new locus for autosomal recessive congenital cataract identified in a Pakistani family
por: Kaul, Haiba, et al.
Publicado: (2010)

Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family
por: Kaul, Haiba, et al.
Publicado: (2010)

A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent
por: Rauf, Bushra, et al.
Publicado: (2016)

Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1
por: Yasmeen, Afshan, et al.
Publicado: (2010)

Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa
por: Ali, Shahbaz, et al.
Publicado: (2011)

Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy
por: Kabir, Firoz, et al.
Publicado: (2013)

Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family
por: Jiao, Xiaodong, et al.
Publicado: (2019)

Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p
por: Sabir, Namerah, et al.
Publicado: (2010)

Mapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3q
por: Sabir, Namerah, et al.
Publicado: (2010)

Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma
por: Rauf, Bushra, et al.
Publicado: (2020)

AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration
por: Li, David, et al.
Publicado: (2014)

Whole genome sequencing data for two individuals of Pakistani descent
por: Khan, Shahid Y., et al.
Publicado: (2018)

Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families
por: Khan, Shahid Y., et al.
Publicado: (2015)

Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma
por: Rauf, Bushra, et al.
Publicado: (2022)

Mutations in FYCO1 identified in families with congenital cataracts
por: Iqbal, Hira, et al.
Publicado: (2020)

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening
por: Chen, Jianjun, et al.
Publicado: (2017)

Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness
por: Naeem, Muhammad Asif, et al.
Publicado: (2015)

Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases
por: Ullah, Inayat, et al.
Publicado: (2016)

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases
por: Kabir, Firoz, et al.
Publicado: (2016)

Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families
por: Firasat, Sabika, et al.
Publicado: (2008)

Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families
por: Nadeem, Raheela, et al.
Publicado: (2020)

Whole genome sequencing data of multiple individuals of Pakistani descent
por: Khan, Shahid Y., et al.
Publicado: (2020)

FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1
por: Khan, Shahid Y., et al.
Publicado: (2016)

Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family
por: Safieh, L Abu, et al.
Publicado: (2009)

Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa
por: Ullah, Inayat, et al.
Publicado: (2016)

Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31
por: Riazuddin, S. Amer, et al.
Publicado: (2009)

Comparative transcriptome analysis of hESC- and iPSC-derived lentoid bodies
por: Ali, Muhammad, et al.
Publicado: (2019)

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families
por: Li, Lin, et al.
Publicado: (2017)

Proteome Profiling of Developing Murine Lens Through Mass Spectrometry
por: Khan, Shahid Y., et al.
Publicado: (2018)

Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma
por: Firasat, Sabika, et al.
Publicado: (2008)

Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing
por: Maranhao, Bruno, et al.
Publicado: (2015)

Identification of novel transcripts and peptides in developing murine lens
por: Khan, Shahid Y., et al.
Publicado: (2018)

A Mouse Model with Ablated Asparaginase and Isoaspartyl Peptidase 1 (Asrgl1) Develops Early Onset Retinal Degeneration (RD) Recapitulating the Human Phenotype
por: Biswas, Pooja, et al.
Publicado: (2022)

Affections Liable to Occur to the Alveolar Process
por: Thurer, Geo. T.
Publicado: (1890)

Cannot write session to /tmp/vufind_sessions/sess_h7h72m6fbm040ln9mhgnl0ebkv