Search results for: Manir Ali

Items from 1 to 20 out of 24 results

article

Cover, Volume 42, Issue 2

James A. Poulter, Molly S. C. Gravett, Rachel L. Taylor, Kaoru Fujinami, more

The back cover image is based on the Research Article New variants and in silico analyses in GRK1 associated Oguchi disease by James A. Poulter et al., https://doi.org/10.1002/humu.24140.

article

New variants and in silico analyses in GRK1 associated Oguchi disease

James A. Poulter, Molly S. C. Gravett, Rachel L. Taylor, Kaoru Fujinami, more

Human Mutation > 42 > 2 > 164 - 176

Biallelic mutations in G‐Protein coupled receptor kinase 1 (GRK1) cause Oguchi disease, a rare subtype of congenital stationary night blindness (CSNB). The purpose of this study was to identify disease causing GRK1 variants and use in‐depth bioinformatic analyses to evaluate how their impact on protein structure could lead to pathogenicity. Patients’ genomic DNA was sequenced by whole genome, whole...

article

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

Julia Felden, Britta Baumann, Manir Ali, Isabelle Audo, more

Human Mutation > 40 > 8 > 1145 - 1155

Achromatopsia (ACHM) is a hereditary cone photoreceptor disorder characterized by the inability to discriminate colors, nystagmus, photophobia, and low‐visual acuity. Six genes have been associated with this rare autosomal recessively inherited disease, including the GNAT2 gene encoding the catalytic α‐subunit of the G‐protein transducin which is expressed in the cone photoreceptor outer segment....

article

Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR

Evangelia S. Panagiotou, Carla Sanjurjo Soriano, James A. Poulter, Emma C. Lord, more

The American Journal of Human Genetics > 2017 > 100 > 6 > 960-968

Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder characterized by the abnormal development of the retinal vasculature. The majority of mutations identified in FEVR are found within four genes that encode the receptor complex (FZD4, LRP5, and TSPAN12) and ligand (NDP) of a molecular pathway that controls angiogenesis, the Norrin-β-catenin signaling pathway. However, half...

article

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

Mingchu Xu, Yajing (Angela) Xie, Hana Abouzeid, Christopher T. Gordon, more

The American Journal of Human Genetics > 2017 > 100 > 4 > 592-604

Pre-mRNA splicing factors play a fundamental role in regulating transcript diversity both temporally and spatially. Genetic defects in several spliceosome components have been linked to a set of non-overlapping spliceosomopathy phenotypes in humans, among which skeletal developmental defects and non-syndromic retinitis pigmentosa (RP) are frequent findings. Here we report that defects in spliceosome-associated...

article

Use of a gene-based case-control association approach in exome sequencing data to elucidate the molecular basis of a mendelian phenotype

Panagiotis I Sergouniotis, Anthony G Robson, Mohammed E El-Asrag, Manir Ali, more

The Lancet > 2017 > 389 > S1 > S14

Over the past 5 years, exome sequencing and whole-genome sequencing have been extensively used to identify genes underlying rare mendelian disorders. These techniques have accelerated not only discovery but also false-positive reports of causality. To address this issue, we developed a statistical inference framework that evaluates the strength of findings from such studies. This method was applied...

article

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Gavin Arno, Keren J. Carss, Sarah Hull, Ceniz Zihni, more

The American Journal of Human Genetics > 2017 > 100 > 2 > 334-342

Mutations in more than 250 genes are implicated in inherited retinal dystrophy; the encoded proteins are involved in a broad spectrum of pathways. The presence of unsolved families after highly parallel sequencing strategies suggests that further genes remain to be identified. Whole-exome and -genome sequencing studies employed here in large cohorts of affected individuals revealed biallelic mutations...

article

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

Gavin Arno, Smriti A. Agrawal, Aiden Eblimit, James Bellingham, more

The American Journal of Human Genetics > 2016 > 99 > 6 > 1305-1315

Retinitis pigmentosa (RP) is the most frequent form of inherited retinal dystrophy. RP is genetically heterogeneous and the genes identified to date encode proteins involved in a wide range of functional pathways, including photoreceptor development, phototransduction, the retinoid cycle, cilia, and outer segment development. Here we report the identification of biallelic mutations in Receptor Expression...

article

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

James A. Poulter, Manir Ali, David F. Gilmour, Aine Rice, more

The American Journal of Human Genetics > 2016 > 98 > 3 > 592

article

A missense variant in CST3 exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer’s disease

Joe M. Butler, Umar Sharif, Manir Ali, Martin McKibbin, more

Human Genetics > 2015 > 134 > 7 > 705-715

Age-related macular degeneration (AMD) and Alzheimer’s disease (AD) are degenerative, multifactorial diseases involving age-related accumulation of extracellular deposits linked to dysregulation of protein homeostasis. Here, we strengthen the evidence that an nsSNP (p.Ala25Thr) in the cysteine proteinase inhibitor cystatin C gene CST3, previously confirmed by meta-analysis to be associated with AD,...

article

Poster #T102 IDENTIFICATION OF A SUSCEPTIBILITY LOCUS IN A CONSANGUINEOUS FAMILY WITH MULTIPLE SCHIZOPHRENIA-AFFECTED MEMBERS

Jose L. Ivorra, Manir Ali, Clare Logan, Tariq Mahmood, more

Schizophrenia Research > 2014 > 153 > Supplement 1 > S325-S326

article

Spectral domain optical coherence tomography imaging of the posterior segment of the eye in the retinal dysplasia and degeneration chicken, an animal model of inherited retinal degeneration

Martin McKibbin, Manir Ali, Chris Inglehearn, Mike Shires, more

Veterinary Ophthalmology > 17 > 2 > 113 - 119

ObjectiveTo investigate qualitative and quantitative differences in the structure of the posterior segment of the eye in 1‐day post‐hatch and 12‐month‐old retinal dysplasia and degeneration (rdd) and wild‐type chickens. Animal studiedRetinal dysplasia and degeneration and wild‐type chickens. ProcedureUsing a commercially available spectral domain optical coherence tomography (OCT) system, 15° horizontal...

article

Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

James A. Poulter, Musallam Al-Araimi, Ivan Conte, Maria M. van Genderen, more

The American Journal of Human Genetics > 2013 > 93 > 6 > 1143-1150

Foveal hypoplasia and optic nerve misrouting are developmental defects of the visual pathway and only co-occur in connection with albinism; to date, they have only been associated with defects in the melanin-biosynthesis pathway. Here, we report that these defects can occur independently of albinism in people with recessive mutations in the putative glutamine transporter gene SLC38A8. Nine different...

article

An X-Ray Scattering Study into the Structural Basis of Corneal Refractive Function in an Avian Model

Siân R. Morgan, Erin P. Dooley, Paul M. Hocking, Chris F. Inglehearn, more

Biophysical Journal > 2013 > 104 > 12 > 2586-2594

Avian vision diseases in which eye growth is compromised are helping to define what governs corneal shape and ultrastructural organization. The highly specific collagen architecture of the main corneal layer, the stroma, is believed to be important for the maintenance of corneal curvature and hence visual quality. Blindness enlarged globe (beg) is a recessively inherited condition of chickens characterized...

article

Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data

Ian M. Carr, Joanne Morgan, Christopher Watson, Svitlana Melnik, more

Human Mutation > 34 > 7 > 945 - 952

Massively parallel (“next generation”) DNA sequencing (NGS) has quickly become the method of choice for seeking pathogenic mutations in rare uncharacterized monogenic diseases. Typically, before DNA sequencing, protein‐coding regions are enriched from patient genomic DNA, representing either the entire genome (“exome sequencing”) or selected mapped candidate loci. Sequence variants, identified as...

article

Identification of autosomal recessive disease loci using out‐bred nuclear families

Ian M. Carr, Christine P. Diggle, Nader Touqan, Rashida Anwar, more

Human Mutation > 33 > 2 > 338 - 342

Autozygosity mapping has been a powerful method for the identification of autosomal recessive disease genes. However, the approach is limited by the availability of suitable consanguineous pedigrees. While rare autosomal recessive diseases are overrepresented in consanguineous families, a significant proportion of affected patients nonetheless originate in families where the parents are apparently...

article

Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma

Kamron Khan, Adam Rudkin, David A. Parry, Kathryn P. Burdon, more

The American Journal of Human Genetics > 2011 > 89 > 3 > 464-473

Anterior segment dysgenesis describes a group of heterogeneous developmental disorders that affect the anterior chamber of the eye and are associated with an increased risk of glaucoma. Here, we report homozygous mutations in peroxidasin (PXDN) in two consanguineous Pakistani families with congenital cataract-microcornea with mild to moderate corneal opacity and in a consanguineous Cambodian family...

article

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

James A. Poulter, Manir Ali, David F. Gilmour, Aine Rice, more

The American Journal of Human Genetics > 2010 > 86 > 2 > 248-253

Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal vascular system. Although mutations in three genes (LRP5, FZD4, and NDP) are known to cause FEVR, these account for only a fraction of FEVR cases. The proteins encoded by these FEVR genes form part of a signaling complex that activates the Norrin-β-catenin signaling pathway. Recently, through a large-scale...

article

Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice

David A. Parry, Carmel Toomes, Lina Bida, Michael Danciger, more

The American Journal of Human Genetics > 2009 > 84 > 5 > 683-691

Cone-rod dystrophy (CRD) is an inherited progressive retinal dystrophy affecting the function of cone and rod photoreceptors. By autozygosity mapping, we identified null mutations in the ADAM metallopeptidase domain 9 (ADAM9) gene in four consanguineous families with recessively inherited early-onset CRD. We also found reduced photoreceptor responses in Adam9 knockout mice, previously reported to...

article

Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

Manir Ali, Martin McKibbin, Adam Booth, David A. Parry, more

The American Journal of Human Genetics > 2009 > 84 > 5 > 664-671

Primary congenital glaucoma (PCG) is an autosomal-recessive condition characterized by high intraocular pressure (IOP), usually within the first year of life, which potentially could lead to optic nerve damage, globe enlargement, and permanent loss of vision. To date, PCG has been linked to three loci: 2p21 (GLC3A), for which the responsible gene is CYP1B1, and 1p36 (GLC3B) and 14q24 (GLC3C), for...

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INFONA - science communication portal

Search results for: Manir Ali

Cover, Volume 42, Issue 2

New variants and in silico analyses in GRK1 associated Oguchi disease

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

Use of a gene-based case-control association approach in exome sequencing data to elucidate the molecular basis of a mendelian phenotype

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

A missense variant in CST3 exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer’s disease

Poster #T102 IDENTIFICATION OF A SUSCEPTIBILITY LOCUS IN A CONSANGUINEOUS FAMILY WITH MULTIPLE SCHIZOPHRENIA-AFFECTED MEMBERS

Spectral domain optical coherence tomography imaging of the posterior segment of the eye in the retinal dysplasia and degeneration chicken, an animal model of inherited retinal degeneration

Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

An X-Ray Scattering Study into the Structural Basis of Corneal Refractive Function in an Avian Model

Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data

Identification of autosomal recessive disease loci using out‐bred nuclear families

Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice

Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

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