ArticleGenes2026
Expanding the Mutation Spectrum of Non-Syndromic Retinitis Pigmentosa in Consanguineous Pakistani Families: Unraveling Novel Pathogenic Variants in
Tayyaba Shan, Nimra Mukhtar, Sayyed Hammad Ullah, Asad Ullah, Asfandyar Ahmad Khan, Yumei Li, Meng Wang, Raeesa Tehreem, Amtul Aziz, Kiran Afshan and 2 more
Abstract read
In one paragraphArticle in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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2 · The registryThe trial behind it
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3 · Its place in the literatureWho cites it
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4 · The recordCorrections and comments
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5 · Who and what moneyAuthors and funding
12 authors.
Tayyaba ShanDepartment of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad 45320, Pakistan.
Nimra MukhtarDepartment of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad 45320, Pakistan.
Sayyed Hammad UllahDepartment of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad 45320, Pakistan.ORCID 0009-0006-4853-2630 Asad UllahDepartment of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad 45320, Pakistan.
Asfandyar Ahmad KhanDepartment of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad 45320, Pakistan.
Yumei LiDepartment of Ophthalmology, Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine, CA 92697, USA.
Meng WangDepartment of Ophthalmology, Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine, CA 92697, USA.ORCID 0000-0003-2742-3559 Raeesa TehreemDepartment of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad 45320, Pakistan.ORCID 0000-0002-3423-7730 Amtul AzizDiagnostic Center, Al-Shifa Trust Eye Hospital, Jhelum Road, Rawalpindi 46000, Pakistan.
Kiran AfshanDepartment of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad 45320, Pakistan.ORCID 0000-0002-3979-7606 Rui ChenDepartment of Ophthalmology, Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine, CA 92697, USA.ORCID 0000-0002-4387-9735 Sabika FirasatDepartment of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad 45320, Pakistan.ORCID 0000-0003-4959-7832 Funding
Proteomics CoreP30EY010572 · NEI · OREGON HEALTH & SCIENCE UNIVERSITY · PI TED S ACOTT · 1995 to 2026
$19.4MMEASURES OF HUMAN RECEPTOR AND POST RECEPTOR ACTIVITYR01EY009076 · NEI · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI BIRCH, DAVID G, HOOD, DONALD C. · 1991 to 2021
$8.3MNEI UCI Center Core Grant for Vision ResearchP30EY034070 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI Vladimir Jivkov Kefalov · 2022 to 2026
$3.7MAntisense therapy for the treatment of visual loss in Usher syndromeR01EY030499 · NEI · LSU HEALTH SCIENCES CENTER · PI KOENEKOOP, ROBERT, LENTZ, JENNIFER JEAN · 2019 to 2023
$1.7MHigh Throughput Genomic Sequencer at BCM Core FacilityS10OD023469 · OD · BAYLOR COLLEGE OF MEDICINE · PI CHEN, RUI · 2017 to 2017
$600kNEI NIH HHS EY022356, EY018571, EY002520, P30EY010572, EY09076, EY030499NEI NIH HHS P30 EY010572NEI NIH HHS P30 EY034070NEI NIH HHS R01 EY009076NEI NIH HHS R01 EY030499NIH HHS S10 OD023469
6 · The paper itselfAbstract
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Indexed as
Cyclic Nucleotide Phosphodiesterases, Type 6Eye ProteinsMembrane ProteinsMutationRetinitis PigmentosaConsanguinityFemaleGene FrequencyHumansMaleMicrotubule-Associated ProteinsPakistanPedigreeCyclic Nucleotide Phosphodiesterases, Type 6Eye ProteinsMembrane ProteinsMicrotubule-Associated ProteinsPDE6B protein, humanRP1 protein, humannext-generation sequencingnon-syndromicnovelretinal dystrophiesretinitis pigmentosa
Identifiers
PMID42194986
PMCPMC13205176
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