User profiles for "author:Saghira Malik Sharif"
Saghira Malik SharifLeeds Teaching Hospitals Verified email at nhs.net Cited by 2156 |
[HTML][HTML] Meckel–Gruber syndrome: an update on diagnosis, clinical management, and research advances
Meckel–Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly
syndrome caused by mutations in genes encoding proteins that are structural or functional …
syndrome caused by mutations in genes encoding proteins that are structural or functional …
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat
UM Smith, M Consugar, LJ Tee, BM McKee… - Nature …, 2006 - nature.com
Meckel-Gruber syndrome is a severe autosomal, recessively inherited disorder
characterized by bilateral renal cystic dysplasia, developmental defects of the central …
characterized by bilateral renal cystic dysplasia, developmental defects of the central …
[PDF][PDF] Quantification of homozygosity in consanguineous individuals with autosomal recessive disease
Individuals born of consanguineous union have segments of their genomes that are
homozygous as a result of inheriting identical ancestral genomic segments through both …
homozygous as a result of inheriting identical ancestral genomic segments through both …
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus
JH Lee, JL Silhavy, JE Lee, L Al-Gazali, S Thomas… - Science, 2012 - science.org
Neighboring genes are often coordinately expressed within cis-regulatory modules, but
evidence that nonparalogous genes share functions in mammals is lacking. Here, we report …
evidence that nonparalogous genes share functions in mammals is lacking. Here, we report …
[PDF][PDF] Biallelic mutations in PDE10A lead to loss of striatal PDE10A and a hyperkinetic movement disorder with onset in infancy
Deficits in the basal ganglia pathways modulating cortical motor activity underlie both
Parkinson disease (PD) and Huntington disease (HD). Phosphodiesterase 10A (PDE10A) is …
Parkinson disease (PD) and Huntington disease (HD). Phosphodiesterase 10A (PDE10A) is …
A family with Papillon-Lefevre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity
Activation of granzyme B, a key cytolytic effector molecule of natural killer (NK) cells,
requires removal of an N-terminal pro-domain. In mice, cathepsin C is required for granzyme …
requires removal of an N-terminal pro-domain. In mice, cathepsin C is required for granzyme …
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain
S Zhang, SM Sharif, YC Chen, EM Valente… - Journal of Medical …, 2016 - jmg.bmj.com
Background Congenital insensitivity to pain (CIP) is a rare extreme phenotype characterised
by an inability to perceive pain present from birth due to lack of, or malfunction of …
by an inability to perceive pain present from birth due to lack of, or malfunction of …
[HTML][HTML] Fine-scale population structure and demographic history of British Pakistanis
E Arciero, SA Dogra, DS Malawsky… - Nature …, 2021 - nature.com
Previous genetic and public health research in the Pakistani population has focused on the
role of consanguinity in increasing recessive disease risk, but little is known about its recent …
role of consanguinity in increasing recessive disease risk, but little is known about its recent …
[HTML][HTML] Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies
K Szymanska, I Berry, CV Logan, SRR Cousins… - Cilia, 2012 - Springer
Abstract Background Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal
condition that is a ciliopathy. MKS has marked phenotypic variability and genetic …
condition that is a ciliopathy. MKS has marked phenotypic variability and genetic …
[PDF][PDF] Influence of autozygosity on common disease risk across the phenotypic spectrum
Autozygosity is associated with rare Mendelian disorders and clinically relevant quantitative
traits. We investigated associations between the fraction of the genome in runs of …
traits. We investigated associations between the fraction of the genome in runs of …