Mohammad Faraz Zafeer

Divergent regulation of STING-mediated innate immune responses by CBP and p300

Koteswara Rao Garikapati, Derek Van Booven, Mohammad Faraz Zafeer, Mustafa Tekin et autres

Abstract Dysregulation of cGAS-STING pathway contributes to various disorders, including autoimmunity, infectious diseases and cancer. Transcription factors, particularly IRF3 which presumably recruits CBP/p300 as transcription coactivators, drive innate immune responses to STING activation. Here we show that CBP/p300 inhibitors (p300i) boost, not …

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Establishment and characterization of three human pluripotent stem cell lines from patients with spinocerebellar ataxia 27B (SCA27B)

David Pellerin, Adriana Rebelo, Mohammad Faraz Zafeer, Meghan Ditmeyer et autres

Spinocerebellar ataxia 27B (SCA27B) is a common autosomal dominant cerebellar ataxia caused by an intronic GAA•TTC repeat expansion in the FGF14 gene. Here, we report the generation and validation of three human induced pluripotent stem cell (iPSC) lines derived from unrelated individuals …

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Establishment and characterization of two human pluripotent stem cell lines from patients with ATX-FGF14/spinocerebellar ataxia 27A (SCA27A)

David Pellerin, Adriana Rebelo, Mohammad Faraz Zafeer, Pablo Iruzubieta et autres

Spinocerebellar ataxia 27A (SCA27A) is a rare inherited ataxia arising from heterozygous pathogenic loss-of-function variants in FGF14. Autosomal recessive FGF14-related cerebellar ataxia has also been reported in a single individual to date. Here, we describe the generation and characterization of human induced …

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Distal enhancer-insulator module of GDF6 is essential for cochlear formation

Mohammad Faraz Zafeer, Clemer Abad, Havva Ortabozkoyun, Memoona Ramzan et autres

Several genes guide inner ear development, and mutations in these genes can cause malformations that result in congenital hearing loss. However, the contribution of noncoding regulatory elements remains largely unclear. This study investigates the function of distal enhancer elements in the transcriptional …

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CDK4 and CDK6 variants in patients with primary microcephaly lead to cell cycle defects and mitochondria-induced apoptosis

Esra Isik, Mohammad Faraz Zafeer, Güney Bademci, Memoona Ramzan et autres

Background The disruption of neural progenitor proliferation is a key mechanism underlying primary microcephaly, yet how cell cycle arrest leads to progenitor loss remains only partially understood. Cyclin-dependent kinases, CDK4 and CDK6, are central regulators of the G₁/S transition, but their role …

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P410: Ectopic expression of MEIOSIN and RAF1 downregulation is associated with neurodevelopmental delay in a child with balanced translocation t(3;19)(p26;q13.4)

Kayra Somay, Carson C Smith, Mohammad Faraz Zafeer, Alejo Morales et autres

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Carboxypeptidase D deficiency causes hearing loss amenable to treatment

Memoona Ramzan, Natalie Ortiz-Vega, Mohammad Faraz Zafeer, Amanda G. Lobato et autres

Genetic factors contributing to hearing loss (HL) are heterogeneous, and effective medical treatments remain limited. We identified 3 distinct missense variants in CPD, encoding carboxypeptidase D, in 5 individuals with congenital deafness from 3 unrelated families, affecting the catalytically active CP domain …

Carboxypeptidase D deficiency causes hearing loss amenable to treatment

Memoona Ramzan, Natalie Ortiz-Vega, Mohammad Faraz Zafeer, Amanda G. Lobato et autres

Genetic factors contributing to hearing loss (HL) are heterogeneous, and effective medical treatments remain limited. We identified 3 distinct missense variants in CPD, encoding carboxypeptidase D, in 5 individuals with congenital deafness from 3 unrelated families, affecting the catalytically active CP domain …

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Human organoids for rapid validation of gene variants linked to cochlear malformations

Mohammad Faraz Zafeer, Memoona Ramzan, Duygu Duman, Ahmet Mutlu et autres

Developmental anomalies of the hearing organ, the cochlea, are diagnosed in approximately one-fourth of individuals with congenital. The majority of patients with cochlear malformations remain etiologically undiagnosed due to insufficient knowledge about underlying genes or the inability to make conclusive interpretations of …

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KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3

Nicholas A. Borja, Mohammad Faraz Zafeer, Stephanie Bivona, LéShon Peart et autres

KIF21A encodes a kinesin motor protein associated with isolated congenital fibrosis of the extraocular muscles (CFEOM), which occurs when the autoinhibitory interaction between its motor and third coiled-coil domains is disrupted. In this study, we describe a female child who is heterozygous …

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Human Organoids for Rapid Validation of Gene Variants Linked to Cochlear Malformations

Mohammad Faraz Zafeer, Memoona Ramzan, Duygu Duman, Ahmet Mutlu et autres

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Gene therapy for hereditary deafness

Carson Smith, Mohammad Faraz Zafeer, Mustafa Tekin

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