A5037509365- Skin and Cellular Biology Research
- Hair Growth and Disorders
- Genetics and Neurodevelopmental Disorders
- Connective tissue disorders research
- RNA regulation and disease
- Chronic Myeloid Leukemia Treatments
- Wnt/β-catenin signaling in development and cancer
- Genomics and Rare Diseases
- Congenital limb and hand anomalies
- Genomic variations and chromosomal abnormalities
- Hearing, Cochlea, Tinnitus, Genetics
- Hedgehog Signaling Pathway Studies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Ubiquitin and proteasome pathways
- RNA modifications and cancer
- Cell Adhesion Molecules Research
- Reproductive Biology and Fertility
- Microtubule and mitosis dynamics
- Congenital heart defects research
- RNA Research and Splicing
- Chronic Lymphocytic Leukemia Research
- Acute Myeloid Leukemia Research
- Genetic and Kidney Cyst Diseases
- Autoimmune Bullous Skin Diseases
- Neurogenetic and Muscular Disorders Research
Taibah University
2016-2025
Khyber Medical University
2020
Quaid-i-Azam University
1969-2013
Radboud University Nijmegen
2011
University of Balochistan
2011
Balochistan University of Information Technology, Engineering and Management Sciences
2011
Premature ovarian failure (POF) is a genetically and phenotypically heterogeneous disorder that includes individuals with manifestations ranging from primary amenorrhea to loss of menstrual function prior age 40. POF presents as hypergonadotropic hypogonadism can be part syndrome or occur in isolation. Here, we studied 3 sisters amenorrhea, hypothyroidism, hypogonadism. The were born parents who are first cousins. SNP analysis whole-exome sequencing revealed the presence pathogenic variant...
ABSTRACT Aim Autosomal recessive primary hyperoxalurias (PH) are genetic disorders characterised by elevated oxalate production. Mutations in genes involved glycoxylate metabolism the underlying cause of PH. Type 1 PH (PH1) results malfunctioning alanine‐glyoxylate aminotransferase enzymes liver due to a change sequence ( AGXT ) gene. We encountered large family segregating disease high kidney stones. A analysis was carried out with aim identify defect. Methods multiple affected individuals...
Peroxisome biogenesis disorders (PBD) affect multiple organ systems. It is characterized by neurological dysfunction, hypotonia, ocular anomalies, craniofacial abnormalities, and absence of peroxisomes in fibroblasts. PBDs are associated with mutations any fourteen different
Background Premature ovarian insufficiency (POI) is defined as a primary defect characterized by absent menarche (primary amenorrhea) or premature depletion of follicles before the age 40 (secondary with hypergonadotropism and hypoestrogenism. POI results in infertility lifelong steroid deficiency, potentially associated accelerated health risks such cardiovascular neurodegenerative disorders osteoporosis.
Khan S, Basit Zimri FK, Ali N, G, Ansar M, Ahmad W. A novel homozygous missense mutation in WNT10B familial split‐hand/foot malformation. Split‐hand/foot malformation (SHFM) is a rare limb developmental malformation, characterized by variable degree of median clefts hands and feet due to the absence central rays extremities. To date, six different forms SHFM have been described. Four these SHFM1, SHFM3, SHFM4 SHFM5 show autosomal dominant, SHFM6 recessive SHFM2 X‐linked pattern inheritance....
Developmental dysplasia of the hip (DDH) is a common pathological condition musculoskeletal system in infants which results congenital and developmental malformation joint. DDH spectrum pathologies affecting infant ranging from asymptomatic subtle radiographic signs through mild instability to frank dislocations with acetabular dysplasia. A Saudi family three affected individuals was identified genetic analysis performed detect possible defect(s) underlying members family. We whole genome...
Autism spectrum disorder (ASD) is a complicated, lifelong neurodevelopmental affecting verbal and non-verbal communication social interactions. ASD signs symptoms appear early in development before the age of 3 years. It unlikely for person to acquire autism after period normal development. However, we encountered an 8-year-old child who developed later life although his developmental milestones were at beginning life. Sequencing complete coding part genome identified hemizygous nonsense...
Developmental dysplasia of the hip (DDH) is one most prevalent developmental orthopedic diseases worldwide. DDH a spectrum anatomical abnormalities joint and characterized by premature arthritis in later life. Sporadic cases have been reported more frequently; however, some studies families segregating DDH. Studies suggested that genetic factors play significant role development In order to detect defect underlying DDH, we performed Sanger sequencing all associated genes, whole genome SNP...
We performed whole exome sequencing to identify an unknown genetic cause of azoospermia and male infertility in a large Pakistani family. Three infertile males were subjected semen analysis, hormone testing, testicular histology, ultrasonography, karyotyping, Y-chromosome microdeletion CFTR testing. The clinical testing suggested diagnosis obstructive (OA). To the cause, we (WES) for 2 brothers fertile family members. For segregation analysis variant confirmation, Sanger sequencing. WES data...
Background and Objective: Mutations in the CYB5R3 gene cause reduced NADH-dependent cytochrome b5 reductase enzyme function consequently lead to recessive congenital methemoglobinemia (RCM). RCM exists as type I (RCM1) II (RCM2). RCM1 leads higher methemoglobin levels causing only cyanosis, while RCM2, neurological complications are also present along with cyanosis. Materials Methods: In current study, a consanguineous Pakistani family three individuals showing clinical manifestations of...