Publications by authors named "Sheikh Riazuddin"

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Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements.
Hannah M German, Maha S Zaki, Muhammad A Usmani, Irem Karagoz, Stephanie Efthymiou, Sheikh Riazuddin, Saima Riazuddin

Genet Med· December 2025

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KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models.
Tehmeena Akhter, Zubair M Ahmed, Yaping Ji, Axel Schmidt, Meron Azage, Sheikh Riazuddin, Saima Riazuddin

Genet Med· October 2025

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Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
Saima Riazuddin, Inna A Belyantseva, Arnaud P J Giese, Kwanghyuk Lee, Artur A Indzhykulian, Sheikh Riazuddin

Nat Genet· September 2025

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Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.
Samantha Malka, Pooja Biswas, Anne-Marie Berry, Riccardo Sangermano, Mukhtar Ullah, Sheikh Riazuddin, S Amer Riazuddin

Am J Hum Genet· September 2024

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Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.
Amama Ghaffar, Tehmeena Akhter, Petter Strømme, Doriana Misceo, Amjad Khan, Sheikh Riazuddin, Saima Riazuddin

Commun Biol· July 2024

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Deafness DFNB128 Associated with a Recessive Variant of Human Recapitulates Hearing Loss of -Deficient Mice.
Rabia Faridi, Rizwan Yousaf, Sayaka Inagaki, Rafal Olszewski, Shoujun Gu, Sheikh Riazuddin

Genes (Basel)· June 2024

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Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.
Rabia Faridi, Pamela Stratton, Noemi Salmeri, Robert J Morell, Asma Ali Khan, Sheikh Riazuddin

Clin Genet· May 2024

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A Missense Variant in Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred.
Muhammad A Usmani, Amama Ghaffar, Mohsin Shahzad, Javed Akram, Aisha I Majeed, Sheikh Riazuddin, Saima Riazuddin

Genes (Basel)· May 2024

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Adipose Tissue and Umbilical Cord Tissue: Potential Sources of Mesenchymal Stem Cells for Liver Fibrosis Treatment.
Hafiz Ghufran, Maryam Azam, Azra Mehmood, Muhammad Umair, Maria T Baig, Sheikh Riazuddin

J Clin Exp Hepatol· February 2024

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Cassia Angustifolia Primed ASCs Accelerate Burn Wound Healing by Modulation of Inflammatory Response.
Saba Tasneem, Hafiz Ghufran, Maryam Azam, Amna Arif, Musab Bin Umair, Sheikh Riazuddin

Tissue Eng Regen Med· January 2024

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Sarcococca saligna fabricated gold nanoparticles alleviated in vitro oxidative stress and inflammation in human adipose-derived stem cells.
Nadia Naseer, Muhammad Munam Mustafa, Noreen Latief, Numan Fazal, Muhammad Tariq, Sheikh Riazuddin

J Biomed Mater Res B Appl Biomater· December 2023

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Dual AAV-based PCDH15 gene therapy achieves sustained rescue of visual function in a mouse model of Usher syndrome 1F.
Sehar Riaz, Saumil Sethna, Todd Duncan, Muhammad A Naeem, T Michael Redmond, Sheikh Riazuddin, Saima Riazuddin

Mol Ther· December 2023

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Corrigendum to "Priming of adipose-derived stem cells with curcumin prior to cryopreservation preserves their functional potency: Towards an 'Off-the-shelf' therapy for burns" [Cryobiology 110 (2023) 69-78].
Maryam Azam, Hafiz Ghufran, Saba Tasneem, Azra Mehmood, Kausar Malik, Sheikh Riazuddin

Cryobiology· September 2023

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Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.
Rabia Faridi, Rizwan Yousaf, Shoujun Gu, Sayaka Inagaki, Amy E Turriff, Sheikh Riazuddin

Clin Genet· June 2023

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Zinc oxide loaded chitosan-elastin-sodium alginate nanocomposite gel using freeze gelation for enhanced adipose stem cell proliferation and antibacterial properties.
Amna Ramzan, Azra Mehmood, Ramla Ashfaq, Anisa Andleeb, Hira Butt, Sheikh Riazuddin

Int J Biol Macromol· April 2023

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Priming of adipose-derived stem cells with curcumin prior to cryopreservation preserves their functional potency: Towards an 'Off-the-shelf' therapy for burns.
Maryam Azam, Hafiz Ghufran, Saba Tasneem, Azra Mehmood, Kausar Malik, Sheikh Riazuddin

Cryobiology· March 2023

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Priming with caffeic acid enhances the potential and survival ability of human adipose-derived stem cells to counteract hypoxia.
H M Shifa Ul Haq, Ramla Ashfaq, Azra Mehmood, Warda Shahid, Ghufran Azam, Sheikh Riazuddin

Regen Ther· March 2023

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Tumoricidal effects of unprimed and curcumin-primed adipose-derived stem cells on human hepatoma HepG2 cells under oxidative conditions.
Hafiz Ghufran, Maryam Azam, Azra Mehmood, Ramla Ashfaq, Maria Tayyab Baig, Sheikh Riazuddin

Tissue Cell· December 2022

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Hydrogel patch with pretreated stem cells accelerates wound closure in diabetic rats.
Anisa Andleeb, Azra Mehmood, Muhammad Tariq, Hira Butt, Rashid Ahmed, Sheikh Riazuddin

Biomater Adv· November 2022

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Bushra Rauf, Shahid Y Khan, Xiaodong Jiao, Bushra Irum, Ramla Ashfaq, Sheikh Riazuddin, S Amer Riazuddin

Sci Rep· October 2022

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.
Bushra Irum, Firoz Kabir, Nadav Shoshany, Shahid Y Khan, Bushra Rauf, Sheikh Riazuddin, S Amer Riazuddin

Hum Genome Var· September 2022

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CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000-5,000 Years Ago.
Yan Ma, Xun Wang, Nadav Shoshany, Xiaodong Jiao, Adrian Lee, Sheikh Riazuddin, S Amer Riazuddin

Front Genet· March 2022

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Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability.
Amama Ghaffar, Faiza Rasheed, Muhammad Rashid, Hans van Bokhoven, Zubair M Ahmed, Sheikh Riazuddin, Saima Riazuddin

Eur J Hum Genet· February 2022

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Standardization of diethylnitrosamine-induced hepatocellular carcinoma rat model with time based molecular assessment.
Hafiz Ghufran, Maryam Azam, Azra Mehmood, Hira Butt, Sheikh Riazuddin

Exp Mol Pathol· December 2021

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Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
Pooja Biswas, Adda L Villanueva, Angel Soto-Hermida, Jacque L Duncan, Hiroko Matsui, Sheikh Riazuddin, S Amer Riazuddin

PLoS Genet· October 2021

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