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Katta M. Girisha
Kasturba Medical College, Manipal
PathologyMutationGeneticsMedicineBiology
203Publications
19H-index
1,353Citations
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Publications 213
Newest
#1Periyasamy Radhakrishnan (Manipal University)H-Index: 1
#2Anju Shukla (Manipal University)H-Index: 12
Last. Shalini S. Nayak (Manipal University)H-Index: 4
view all 4 authors...
Fetal akinesia deformation sequence (FADS) is a clinically and genetically heterogeneous condition. Pathogenic variants in DOK7 are known to cause myasthenic syndrome, congenital, 10 (MIM#254300) and, rarely (reported in a single family) lethal FADS. Herein, we describe a biallelic variant c.1263dupC in DOK7, known to cause congenital myasthenic syndrome 10, causing lethal FADS in a consanguineous family. The present report illustrates wide phenotypic variability caused by biallelic pathogenic v...
1 CitationsSource
#1Parneet Kaur (Manipal University)
#2Rajagopal Kadavigere (Manipal University)H-Index: 6
Last. Anju Shukla (Manipal University)H-Index: 12
view all 4 authors...
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#1Parneet Kaur (Manipal University)
#2Suvasini Sharma (Lady Hardinge Medical College)H-Index: 12
Last. Anju Shukla (Manipal University)H-Index: 12
view all 5 authors...
Leigh syndrome is a clinically and radiologically heterogeneous condition with approximately 75 genes, nuclear and mitochondrial, known to be implicated in its pathogenesis. Leigh syndrome due to complex II deficiency constitutes 2% to 7% of these cases. Previously, nine individuals with Leigh syndrome have been reported with pathogenic variants in SDHB, which encodes for the iron-sulfur cluster subunit of mitochondrial respiratory chain complex II. The proband presented with Leigh syndrome. Exo...
Source
#1Ankita Singh (PGIMER: Post Graduate Institute of Medical Education and Research)
#2Deepti Suri (PGIMER: Post Graduate Institute of Medical Education and Research)H-Index: 11
Last. Katta M. Girisha (KMC: Kasturba Medical College, Manipal)H-Index: 19
view all 6 authors...
Juvenile idiopathic arthritis (JIA) refers to a group of disorders characterised by wide phenotypic diversity and genetic heterogeneity. Disordered immune response to an environmental trigger in a genetically predisposed individual is the proposed mechanism for most JIA subtypes.1 2 There are emerging reports on new gene locus being identified especially in families with many affected members.3 4 We report three sisters with polyarthritis who were identified to have causative variant in Laccase ...
Source
#1Puneeth H. Somashekar (Manipal University)H-Index: 1
#2Priyanka Upadhyai (Manipal University)H-Index: 4
Last. Katta M. Girisha (Manipal University)H-Index: 19
view all 4 authors...
Abstract Nephronophthisis is an autosomal recessive disease characterized by cystic kidney disease with progression to end-stage kidney disease in children and adolescents with or without extra-renal involvement. It is caused by biallelic pathogenic variants in 19 genes including INVS that encodes a ciliary protein essential for renal development and left-right axis establishment. We report a child with bilateral enlarged, echogenic, polycystic kidneys with end-stage renal disease, anemia and me...
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#1Katta M. Girisha (Manipal University)H-Index: 19
#2Gandham SriLakshmi Bhavani (Manipal University)H-Index: 6
Last. Geert Mortier (University of Antwerp)H-Index: 52
view all 8 authors...
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#1Paul Kruszka (NIH: National Institutes of Health)H-Index: 12
#2Yonit A. Addissie (NIH: National Institutes of Health)H-Index: 7
Last. Maximilian Muenke (NIH: National Institutes of Health)H-Index: 66
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#1Puneeth H. Somashekar (KMC: Kasturba Medical College, Manipal)H-Index: 1
#2Dhanya Lakshmi Narayanan (KMC: Kasturba Medical College, Manipal)H-Index: 2
Last. Anju Shukla (KMC: Kasturba Medical College, Manipal)H-Index: 12
view all 8 authors...
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#1Jayesh ShethH-Index: 12
#2Riddhi BhavsarH-Index: 3
Last. Frenny ShethH-Index: 12
view all 23 authors...
Background Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect. This leads to the glucocerebrosidase enzyme deficiency and an increased accumulation of undegraded glycolipid glucocerebroside inside the cells’ lysosomes. To date, nearly 460 mutations have been described in the GBA1 gene. With the aim to determine mutations spectrum and molecular pathology of Gaucher disease in India, the present study investigated one hundred unrel...
1 CitationsSource
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