User profiles for Katta Mohan Girisha

Girisha KM

Other name: Katta Mohan Girisha
Professor of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of …
Verified email at manipal.edu
Cited by 5983

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

…, F Fouyssac, KM Girisha… - Blood, The Journal …, 2016 - ashpublications.org
Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous
candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have …

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

…, TT Tan, L Vlaminck, SS Nayak, A Shukla, KM Girisha… - Nature, 2018 - nature.com
The four R-spondin secreted ligands (RSPO1–RSPO4) act via their cognate LGR4, LGR5
and LGR6 receptors to amplify WNT signalling 1 , 2 – 3 . Here we report an allelic series of …

The promise of discovering population-specific disease-associated genes in South Asia

…, A Tandon, N Patterson, GSL Bhavani, KM Girisha… - Nature …, 2017 - nature.com
The more than 1.5 billion people who live in South Asia are correctly viewed not as a single
large population but as many small endogamous groups. We assembled genome-wide data …

[PDF][PDF] The genomics of arthrogryposis, a complex trait: candidate genes and further evidence for oligogenic inheritance

…, RA Gibbs, K Tsiakas, M Hempel, KM Girisha… - The American Journal of …, 2019 - cell.com
Arthrogryposis is a clinical finding that is present either as a feature of a neuromuscular
condition or as part of a systemic disease in over 400 Mendelian conditions. The underlying …

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

…, PJ Lockhart, K Pope, A Shukla, KM Girisha… - Journal of human …, 2019 - nature.com
Coffin–Siris syndrome (CSS, MIM#135900) is a congenital disorder characterized by coarse
facial features, intellectual disability, and hypoplasia of the fifth digit and nails. Pathogenic …

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis

…, B Cogne, AM Bertoli-Avella, M Vincent, KM Girisha… - Nature …, 2022 - nature.com
Cirrhosis is usually a late-onset and life-threatening disease characterized by fibrotic scarring
and inflammation that disrupts liver architecture and function. While it is typically the result …

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta

…, J Hecht, U Krüger, A Shukla, U Kornak, KM Girisha - Bone, 2018 - Elsevier
Osteogenesis Imperfecta (OI) is a clinically and genetically heterogeneous disorder. Although
differential diagnosis is greatly facilitated by next generation sequencing, its availability …

Expanding the phenotype associated with 17q12 duplication: case report and review of the literature

…, SB Maddukuri, K Kutsche, KM Girisha - American Journal of …, 2013 - Wiley Online Library
The routine use of molecular karyotyping in the evaluation of patients with idiopathic
developmental delay with/without dysmorphic features, has led to the delineation of several …

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion

…, D Chitayat, P Shannon, KM Girisha… - Human molecular …, 2019 - academic.oup.com
Mutations in genes encoding components of the intraflagellar transport (IFT) complexes have
previously been associated with a spectrum of diseases collectively termed ciliopathies. …

GALNS mutations in Indian patients with mucopolysaccharidosis IVA

…, K Satyamoorthy, KM Girisha - American Journal of …, 2014 - Wiley Online Library
Mucopolysaccharidosis IV A (Morquio syndrome A, MPS IVA) is a lysosomal storage disease
caused by the deficiency of N‐acetylgalactosamine‐6‐sulfatase (GALNS). The mutation …