Postdoc Scholar - Employee
M_PEDS-HEMATOLOGY
Publications
A novel mutation in CFAP58 leads to MMAF in humans and mice by disrupting CP assembly.
Human molecular genetics
Decoding the Genes Orchestrating Egg and Sperm Fusion Reactions and Their Roles in Fertility.
Biomedicines
AF1q is a universal marker of neuroblastoma that sustains N-Myc expression and drives tumorigenesis.
Oncogene
Gene therapy with AAV9-SGPL1 in an animal model of lung fibrosis.
The Journal of pathology
AAV-SPL 2.0, a Modified Adeno-Associated Virus Gene Therapy Agent for the Treatment of Sphingosine Phosphate Lyase Insufficiency Syndrome.
International journal of molecular sciences
A novel NPHP4 homozygous missense variant identified in infertile brothers with multiple morphological abnormalities of the sperm flagella.
Journal of assisted reproduction and genetics
Comparative study of microscale and macroscale technique for encapsulation of Calotropis gigantea extract in metal-conjugated nanomatrices for invasive ductal carcinoma.
Scientific reports
A recessive ACTL7A founder variant leads to male infertility due to acrosome detachment in Pakistani Pashtuns.
Clinical genetics
Biallelic mutations in RNA-binding protein ADAD2 cause spermiogenic failure and non-obstructive azoospermia in humans.
Human reproduction open
Cornichon protein CNIH4 is not essential for mice gametogenesis and fertility.
Developmental biology
A homozygous missense variant in DND1 causes non-obstructive azoospermia in humans.
Frontiers in genetics
CFTR mutations causing congenital unilateral absence of the vas deferens (CUAVD) and congenital absence of the uterus (CAU) in a consanguineous family.
Asian journal of andrology
Biallelic HFM1 variants cause non-obstructive azoospermia with meiotic arrest in humans by impairing crossover formation to varying degrees.
Human reproduction (Oxford, England)
A Homozygous Loss-of-Function Mutation in MSH5 Abolishes MutSγ Axial Loading and Causes Meiotic Arrest in NOA-Affected Individuals.
International journal of molecular sciences
A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms.
Asian journal of andrology
DNAzyme signal amplification based on Au@Ag core-shell nanorods for highly sensitive SERS sensing miRNA-21.
Analytical and bioanalytical chemistry
ZFP541 maintains the repression of pre-pachytene transcriptional programs and promotes male meiosis progression.
Cell reports
Computationally predicted pathogenic USP9X mutation identified in infertile men does not affect spermatogenesis in mice.
Zoological research
Biallelic Variants in CFAP61 Cause Multiple Morphological Abnormalities of the Flagella and Male Infertility.
Frontiers in cell and developmental biology
Novel Loss-of-Function Mutations in DNAH1 Displayed Different Phenotypic Spectrum in Humans and Mice.
Frontiers in endocrinology
Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families.
Asian journal of andrology
The molecular control of meiotic double-strand break (DSB) formation and its significance in human infertility.
Asian journal of andrology
Identification and Functional Investigation of Novel Heterozygous HELQ Mutations in Patients with Sertoli Cell-only Syndrome.
Genetic testing and molecular biomarkers
The evolutionarily conserved gene, Fam114a2, is dispensable for fertility in mouse.
Reproductive biology
The Molecular Mechanism of Sex Hormones on Sertoli Cell Development and Proliferation.
Frontiers in endocrinology
Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X.
European journal of medical genetics
Knockout of the family with sequence similarity 181, member A (Fam181a) gene does not impair spermatogenesis or male fertility in the mouse.
Reproduction, fertility, and development
The Dispensable Roles of X-Linked Ubl4a and Its Autosomal Counterpart Ubl4b in Spermatogenesis Represent a New Evolutionary Type of X-Derived Retrogenes.
Frontiers in genetics
Inactivation of testis-specific gene C4orf46 is dispensable for spermatogenesis and fertility in mouse.
Mammalian genome : official journal of the International Mammalian Genome Society
Role of Lipid Metabolism and Signaling in Mammalian Oocyte Maturation, Quality, and Acquisition of Competence.
Frontiers in cell and developmental biology
Computational analysis of Cyclin D1 gene SNPs and association with breast cancer.
Bioscience reports
Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.
American journal of human genetics
Novel loss-of-function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice.
Clinical genetics
Normal spermatogenesis and fertility in Ddi1 (DNA damage inducible 1) mutant mice.
Reproductive biology
Possible Potential Outcomes from COVID-19 Complications on Testes: Lesson from SARS Infection.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
Correlation of MSH2 exonic deletions and protein downregulation with breast cancer biomarkers and outcome in Pakistani women/patients.
Environmental science and pollution research international
A TOP6BL mutation abolishes meiotic DNA double-strand break formation and causes human infertility.
Science bulletin
Evolutionarily conserved and testis-specific gene, 4930524B15Rik, is not essential for mouse spermatogenesis and fertility.
Molecular biology reports
The testis-specific LINC component SUN3 is essential for sperm head shaping during mouse spermiogenesis.
The Journal of biological chemistry
A DNAH17 missense variant causes flagella destabilization and asthenozoospermia.
The Journal of experimental medicine
Whole exome sequencing identified a heterozygous KCNJ2 missense variant underlying autosomal dominant familial hypokalemic periodic paralysis in a Pakistani family.
Journal of pediatric endocrinology & metabolism : JPEM
In-silico Analyses of Disease Causing Mutations in SLURP1 Gene.
Annals of clinical and laboratory science
Identification of CDKN2A variants in breast cancer patients in Pakistan.
Genes & genetic systems
Whole Exome Sequencing Revealed a Novel Nonsense Variant in the GNRHR Gene Causing Normosmic Hypogonadotropic Hypogonadism in a Pakistani Family.
Hormone research in paediatrics
The deubiquitinating gene Usp29 is dispensable for fertility in male mice.
Science China. Life sciences
TP53LNC-DB, the database of lncRNAs in the p53 signalling network.
Database : the journal of biological databases and curation
CDKN2A/P16INK4A variants association with breast cancer and their in-silico analysis.
Breast cancer (Tokyo, Japan)