User profiles for Saad Pathan

Saad Pathan

Imperial College London
Verified email at imperial.ac.uk
Cited by 1077

[HTML][HTML] Deep dermatophytosis and inherited CARD9 deficiency

F Lanternier, S Pathan, QB Vincent, L Liu… - … England Journal of …, 2013 - Mass Medical Soc
Background Deep dermatophytosis is a severe and sometimes life-threatening fungal
infection caused by dermatophytes. It is characterized by extensive dermal and subcutaneous …

Confirmation of the role of ATG16l1 as a Crohn's disease susceptibility gene

FJR Cummings, R Cooney, S Pathan… - Inflammatory bowel …, 2007 - academic.oup.com
Background A German genome-wide nonsynonymous single nucleotide polymorphism (nsSNP)
association study identified ATG16L1 as a Crohn's disease (CD) susceptibility gene. …

Contribution of the novel inflammatory bowel disease gene IL23R to disease susceptibility and phenotype

…, R Cooney, L Hancock, S Pathan… - Inflammatory bowel …, 2007 - academic.oup.com
Background A North American genome-wide single nucleotide polymorphism (SNP) association
study identified IL23R as a novel inflammatory bowel disease (IBD) susceptibility gene. …

[PDF][PDF] Exome sequencing identifies genes and gene sets contributing to severe childhood obesity, linking PHIP variants to repressed POMC transcription

…, F Payne, JM Keogh, CJ Lelliott, E Henning, S Pathan… - Cell Metabolism, 2020 - cell.com
Obesity is genetically heterogeneous with monogenic and complex polygenic forms. Using
exome and targeted sequencing in 2,737 severely obese cases and 6,704 controls, we …

Clinical and molecular characteristics of isolated colonic Crohn's disease

…, R Cooney, F Cummings, S Pathan… - Inflammatory bowel …, 2008 - academic.oup.com
Background Clinical, serological, and molecular data support the existence of discrete
subsets of Crohn's disease (CD) defined by location of disease. Little is known about the …

From-omics to personalized medicine in nephrology: integration is the key

F Pesce, S Pathan, FP Schena - Nephrology Dialysis …, 2013 - academic.oup.com
Large-scale gene, protein and metabolite measurements (‘omics’) have driven the resolution
of biology to an unprecedented high definition. Passing from reductionism to a system-…

Association between genetic variants in myosin IXB and Crohn's disease

R Cooney, FJR Cummings, S Pathan… - Inflammatory bowel …, 2009 - academic.oup.com
Background Genetic variation in myosin IXB (MYO9B) was found to be associated with
ulcerative colitis (UC) in a recent collaborative study. A nonsynonymous single nucleotide …

Two-stage candidate gene study of chromosome 3p demonstrates an association between nonsynonymous variants in the MST1R gene and Crohn's disease

…, A Morris, R Cooney, S Pathan… - Inflammatory bowel …, 2008 - academic.oup.com
Background Genomewide linkage studies identified chromosome 3p21 as an IBD locus.
Genomewide association studies have supported this locus and the Wellcome Trust Case …

Prevalence of genetic variants associated with inflammatory bowel disease in a healthy First Nations cohort

…, JM Stempak, M Sargent, B Elias, W Xu, S Pathan… - Cmaj, 2012 - Can Med Assoc
Background: Inflammatory bowel disease is the result of both genes and environment.
Canadian First Nations people, despite living in a region with a high prevalence of inflammatory …

Molecular systems in inflammatory bowel disease

S Pathan - Clinical Molecular Medicine, 2020 - Elsevier
Ulcerative colitis (UC) and Crohn’s disease (CD) are chronic inflammatory diseases of the
intestine, which can begin at any age, even in children. Both diseases are commonly known …