Cargando…

AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration

PURPOSE: To localize and identify the gene and mutations causing autosomal recessive retinal dystrophy in two consanguineous Pakistani families. METHODS: Consanguineous families from Pakistan were ascertained to be affected with autosomal recessive retinal degeneration. All affected individuals unde...

Descripción completa

Detalles Bibliográficos
Autores principales:	Li, David, Jin, Chongfei, Jiao, Xiaodong, Li, Lin, Bushra, Tahmina, Naeem, Muhammad Asif, Butt, Nadeem H., Husnain, Tayyab, Sieving, Paul A., Riazuddin, Sheikh, Riazuddin, S. Amer, Hejtmancik, J. Fielding
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3888496/ https://www.ncbi.nlm.nih.gov/pubmed/24426771

Ejemplares similares

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

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)

Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family
por: Kaul, Haiba, 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)

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

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

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

Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts
por: Jiaox, Xiaodong, et al.
Publicado: (2015)

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

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

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

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

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

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

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

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

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

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening
por: Chen, Jianjun, 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)

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

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

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

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

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

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

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa
por: Li, Lin, et al.
Publicado: (2018)

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

CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000–5,000 Years Ago
por: Ma, Yan, et al.
Publicado: (2022)

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

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

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

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

A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa
por: Chen, Yabin, et al.
Publicado: (2018)

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

Mutation of ATF6 causes autosomal recessive achromatopsia
por: Ansar, Muhammad, et al.
Publicado: (2015)

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)

Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy
por: Sheikh, Shakeel A., et al.
Publicado: (2019)

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability
por: Scala, Marcello, et al.
Publicado: (2020)

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

Autophagy Requirements for Eye Lens Differentiation and Transparency
por: Brennan, Lisa, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_9reui2i273d6h4tblfousc14ht