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Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts

PloS one, 2015-09, Vol.10 (9), p.e0137973-e0137973

2015

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FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1

Nature communications, 2016-04, Vol.7 (1), p.10953-10953, Article 10953

2016

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts

Human genome variation, 2022-09, Vol.9 (1), p.31-31, Article 31

2022

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Exploring Core Genes by Comparative Transcriptomics Analysis for Early Diagnosis, Prognosis, and Therapies of Colorectal Cancer

Cancers, 2023-02, Vol.15 (5), p.1369

2023

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Generation and proteome profiling of PBMC-originated, iPSC-derived lentoid bodies

Stem cell research, 2020-07, Vol.46, p.101813-101813, Article 101813

2020

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Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts

PloS one, 2016-11, Vol.11 (11), p.e0162620-e0162620

2016

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

PloS one, 2016-06, Vol.11 (6), p.e0157005-e0157005

2016

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An overview of triple infection with hepatitis B, C and D viruses

Virology journal, 2011-07, Vol.8 (1), p.368-368, Article 368

2011

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Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts

PloS one, 2016-12, Vol.11 (12), p.e0167562

2016

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

PloS one, 2017-01, Vol.12 (1), p.e0171403-e0171403

2017

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Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families

Human genome variation, 2020, Vol.7 (1), p.14-14, Article 14

2020

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Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts

PloS one, 2017-03, Vol.12 (3), p.e0173719-e0173719

2017

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Performance evaluation of monocrystalline and polycrystalline-based solar cell

International journal of energy and environmental engineering, 2023-12, Vol.14 (4), p.949-960

2023

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The role of FYCO1-dependent autophagy in lens fiber cell differentiation

Autophagy, 2022-09, Vol.18 (9), p.2198-2215

2022

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Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma

Molecular vision, 2020, Vol.26, p.14-25

2020

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Comparative transcriptome analysis of hESC- and iPSC-derived lentoid bodies

Scientific reports, 2019-12, Vol.9 (1), p.18552-9, Article 18552

2019

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Comparative transcriptome analysis of hESC- and iPSC-derived corneal endothelial cells

Experimental eye research, 2018-11, Vol.176, p.252-257

2018

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Robust identification of common genomic biomarkers from multiple gene expression profiles for the prognosis, diagnosis, and therapies of pancreatic cancer

Computers in biology and medicine, 2023-01, Vol.152, p.106411-106411, Article 106411

2023

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Proteome Profiling of Developing Murine Lens Through Mass Spectrometry

Investigative ophthalmology & visual science, 2018-01, Vol.59 (1), p.100-107

2018

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Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

PLoS genetics, 2018-08, Vol.14 (8), p.e1007504-e1007504

2018

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Identification of novel transcripts and peptides in developing murine lens

Scientific reports, 2018-07, Vol.8 (1), p.11162-9, Article 11162

2018

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Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases

Molecular vision, 2016, Vol.22, p.797-815

2016

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Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases

Molecular vision, 2016-06, Vol.22, p.610-625

2016

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Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families

Human genome variation, 2020-05, Vol.7 (1), p.14

2020

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Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts

A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes

FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts

Exploring Core Genes by Comparative Transcriptomics Analysis for Early Diagnosis, Prognosis, and Therapies of Colorectal Cancer

Generation and proteome profiling of PBMC-originated, iPSC-derived lentoid bodies

Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts

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

An overview of triple infection with hepatitis B, C and D viruses

Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts

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

Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families

Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts

Performance evaluation of monocrystalline and polycrystalline-based solar cell

The role of FYCO1-dependent autophagy in lens fiber cell differentiation

Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma

Comparative transcriptome analysis of hESC- and iPSC-derived lentoid bodies

Comparative transcriptome analysis of hESC- and iPSC-derived corneal endothelial cells

Robust identification of common genomic biomarkers from multiple gene expression profiles for the prognosis, diagnosis, and therapies of pancreatic cancer

Proteome Profiling of Developing Murine Lens Through Mass Spectrometry

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

Identification of novel transcripts and peptides in developing murine lens

Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases

Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families

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