Early insights into the role of Exoc6B associated with spondyloepimetaphyseal dysplasia with joint laxity type 3 in primary ciliogenesis and chondrogenic differentiation in vitro.

Autor: Guleria VS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Quadri N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Prasad K; Department of Cell and Molecular Biology, Manipal School of Life Sciences, Manipal Academy of Higher Education, Manipal, India., Das R; Division of Data Analytics, Bioinformatics and Structural Biology, Yenepoya Research Centre, Yenepoya (Deemed to be University), Mangalore, India., Upadhyai P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. priyanka.u@manipal.edu.

Publikováno v: Molecular biology reports [Mol Biol Rep] 2024 Feb 02; Vol. 51 (1), pp. 274. Date of Electronic Publication: 2024 Feb 02.

Pharmacogenomic evaluation of CYP2C19 alleles linking low clopidogrel response and the risk of acute coronary syndrome in Indians.

Autor: Bhat KG; Department of Cardiology, Army Hospital, Research and Referral, New Delhi, India., Pillai RKJ; Department of Cardiology, Army Hospital, Research and Referral, New Delhi, India., Lodhi H; Department of Cardiology, Army Hospital, Research and Referral, New Delhi, India., Guleria VS; Department of Cardiology, Army Hospital, Research and Referral, New Delhi, India., Abbot AK; Department of Cardiology, Army Hospital, Research and Referral, New Delhi, India., Gupta L; NMC Genetics India Pvt. Ltd, Gurugram, Haryana, India., Rastogi G; NMC Genetics India Pvt. Ltd, Gurugram, Haryana, India., Sharma A; NMC Genetics India Pvt. Ltd, Gurugram, Haryana, India., Mohammed Z; Lab Division, NMC Healthcare, Abu Dhabi, UAE., Sharma V; NMC Genetics India Pvt. Ltd, Gurugram, Haryana, India.

Publikováno v: The journal of gene medicine [J Gene Med] 2024 Jan; Vol. 26 (1), pp. e3634. Date of Electronic Publication: 2023 Nov 20.

Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.

Autor: Simsek-Kiper PO; Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Jacob P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Upadhyai P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Taşkıran ZE; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Guleria VS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Karaosmanoglu B; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Imren G; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Gocmen R; Department of Radiology, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Bhavani GS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Kausthubham N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Shah H; Department of Pediatric Orthopaedics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Utine GE; Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Boduroglu K; Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

Publikováno v: Human mutation [Hum Mutat] 2022 Dec; Vol. 43 (12), pp. 2116-2129. Date of Electronic Publication: 2022 Oct 08.

The intraflagellar transport protein IFT52 associated with short-rib thoracic dysplasia is essential for ciliary function in osteogenic differentiation in vitro and for sensory perception in Drosophila.

Autor: Guleria VS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Parit R; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Quadri N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Das R; Yenepoya Research Centre, Yenepoya (Deemed to Be University), Mangalore, India., Upadhyai P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. Electronic address: priyanka.u@manipal.edu.

Publikováno v: Experimental cell research [Exp Cell Res] 2022 Sep 15; Vol. 418 (2), pp. 113273. Date of Electronic Publication: 2022 Jul 15.

Minimizing scattered radiation dose in cardiac catheterization laboratory during interventional procedures using lead free drape - MILD study.

Autor: Bhat KG; Department of Cardiology, Army Hospital Research & Referral, New Delhi, India., Guleria VS; Department of Cardiology, Army Hospital Research & Referral, New Delhi, India. Electronic address: viveksguleria@gmail.com., Singla M; Department of Cardiology, Army Hospital Research & Referral, New Delhi, India., Bohra V; Department of Cardiology, Army Hospital Research & Referral, New Delhi, India., Kumar J R; Department of Cardiology, Army Hospital Research & Referral, New Delhi, India., Bharadwaj P; Department of Cardiology, Army Hospital Research & Referral, New Delhi, India., Datta R; Department of Cardiology, Army Hospital Research & Referral, New Delhi, India., Hasija PK; Department of Cardiology, Army Hospital Research & Referral, New Delhi, India.

Publikováno v: Indian heart journal [Indian Heart J] 2022 May-Jun; Vol. 74 (3), pp. 201-205. Date of Electronic Publication: 2022 Apr 12.