A Homozygous Nonsense Mutation in the Human Desmocollin-3 (DSC3) Gene Underlies Hereditary Hypotrichosis and Recurrent Skin Vesicles

Muhammad Ayub, Sulman Basit, Musharraf Jelani, +4

The American Journal of Human Genetics

Genetic DisorderGeneticsMolecular GeneticsMedical GeneticsDermatology +5

Subtractive genome analysis for in silico identification and characterization of novel drug targets in Streptococcus pneumonia strain JJA

Abdul Wadood, Alam Jamal, Muhammad Riaz, +4

Microbial Pathogenesis

Subtractive Genome AnalysisAntimicrobial Resistance GeneHealth SciencesNovel Drug TargetsMolecular Biology +8

Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3)

Zahid Azeem, Musharraf Jelani, Gul Naz, +9

Human Genetics

Signal TransductionG Protein-coupled ReceptorGenetic DisorderGeneticsInherited Metabolic Disease +7

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3

Saleem Ahmed, Musharraf Jelani, Nuha Alrayes, +7

Journal of the Neurological Sciences

Mendelian DisorderClpp GeneGenetic DisorderGeneticsNovel Missense Mutation +7

A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities

Musharraf Jelani, Hannah C. Dooley, Andrea Gubaš, +12

Brain

MitophagyFamily MembersGeneticsPathologyMolecular Genetics +18

A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features

Hussein Sheikh Ali Mohamoud, Saleem Ahmed, Musharraf Jelani, +6

Scientific Reports

Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family

Musharraf Jelani, Saleem Ahmed, Mona Mohammad Almramhi, +5

European Journal of Medical Genetics

Developmental AnomalyMendelian DisorderPtrf Gene UnderliesConsanguineous Saudi FamilyGenetic Disorder +6

A novel deletion mutation in <i>LIPH</i> gene causes autosomal recessive hypotrichosis (LAH2)

Musharraf Jelani, Naveed Wasif, Ghazanfar Ali, +2

Clinical Genetics

Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1)

Musharraf Jelani, Muhammad Salman Chishti, Wasim Ahmad

Journal of Human Genetics

Rare DiseasesDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics +7

Insight into the serum kisspeptin levels in infertile males.

Muhammad Ramzan, Muhammad Ramzan, Faiqah Ramzan, +4

PubMed