• Publications
  • Influence
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
Loss-of-function mutations of ILDR1, a gene with a conserved expression pattern pointing to a Conserved function in hearing in vertebrates, are identified as underlying nonsyndromic prelingual sensorineural hearing impairment. Expand
Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability.
This study identifies an autosomal recessive disorder caused by an MCM8 mutation that manifests with endocrine dysfunction and genomic instability that is associated with premature ovarian failure. Expand
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.
Quantitative analysis of GRXCR1 transcripts in fetal and adult human tissues revealed a preferential expression of the gene in fetal cochlea, which may explain the nonsyndromic nature of the hearing impairment. Expand
Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48
It is reported that mutations in CIB2, which encodes a calcium- and integrin-binding protein, are associated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1J (USH1J), and it is shown that C IB2 is a new member of the vertebrate Usher interactome. Expand
Genetics of clubfoot; recent progress and future perspectives.
Elucidation of genetic players and cellular pathways underlying TEV will certainly increase the understanding of the pathophysiology of this deformity. Expand
Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
The body of evidence implicating the KRT74 gene in the pathogenesis of autosomal dominant hair loss disorders is extended, and two novel mutations in the affected individuals of the families are identified. Expand
Vitamin D in health and disease: a literature review
  • S. Basit
  • Medicine
  • British journal of biomedical science
  • 1 January 2013
Vitamin D physiology and metabolism, its genomic action and association of polymorphisms in vitamin D pathway genes with different diseases are reviewed by focusing on new findings published in the literature. Expand
First macrocyclic 3rd-generation ALK inhibitor for treatment of ALK/ROS1 cancer: Clinical and designing strategy update of lorlatinib.
Lorlatinib is a 3rd-generation macrocyclic ALK-TKI that demonstrates many advantages over 2nd-generation ALK inhibitors and acts as an ALK/ROS1 inhibitor in clinical settings. Expand
DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2
DFNB89 is a novel autosomal recessive nonsyndromic hearing impairment (ARNSHI) locus that was mapped to 16q21-q23 by carrying out genome-wide linkage scans in two unrelated, consanguineous Pakistani families segregating ARNSHI. Expand
CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly
The study revealed the first variant in the CIT causing MCPH in the family, which is predicted to abolish splice donor site in citron kinase gene. Expand