Search
Now showing items 1-4 of 4
Frequency of pathogenic germline mutations in cancer susceptibility genes in breast cancer patients
(Humana Press Inc., 2018)
In this study, we evaluated the incidence of pathogenic germline mutations in 30 breast cancer susceptibility genes in breast cancer patients. Our aim was to understand the involvement of the inherited mutations in these ...
Analysis of PCNT gene coding sequence in subjects with Microcephalic Osteodysplastic Primordial Dwarfism Type II
(Central University of Punjab, 2018)
Pericentrin (PCNT) is a main scaffold protein of Centrosome. It is encoded by PCNT gene which comprises of 47 exons and its cytogenetic location is 21q22.3. PCNT is a large protein containing 3336 amino acids. In PCNT ...
Analysis of exonic region of PCNT gene in Microcephalic Osteodysplastic Primordial Dwarfism Type II subjects
(Central University of Punjab, 2018)
MOPD II is an autosomal recessive disorder. It is characterised by the presence of
intra uterine growth retardation as well as post natal growth retardation. The adult
height is not more than 100 cm. It has been found ...
Potential Mitochondrial-Specific Function Of piRNAs
(Central University of Punjab, 2018)
Piwi-interacting RNAs (piRNAs) are (26-31 nt) small noncoding RNAs processed from their longer precursor transcripts with the help of Piwi proteins. There are more than 30,000 piRNA genes present in the human genome which ...