Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Vishwanath Kumble Bhat"'
Autor:
Nivedita Singh, Pradeep Kallollimath, Mohd Hussain Shah, Saketh Kapoor, Vishwanath Kumble Bhat, Lakshminarayanapuram Gopal Viswanathan, Madhu Nagappa, Parayil S Bindu, Arun B Taly, Sanjib Sinha, Arun Kumar
Publikováno v:
PLoS ONE, Vol 14, Iss 5, p e0215779 (2019)
Wilson disease (WD) is an autosomal recessive disorder, characterized by excessive deposition of copper in various parts of the body, mainly in the liver and brain. It is caused by mutations in ATP7B. We report here the genetic analysis of 102 WD fam
Externí odkaz:
https://doaj.org/article/a81a5e7e58da43aa88d12f5f5c36f15d
Autor:
Debanjan Dutta, Maheswara R Duvvari, Ankana Tiwari, Gowri J Murthy, Sautan Show, Upendra Nongthomba, Mohammad Iqbal Rather, M Madhangi, Nivedita Singh, Vishwanath Kumble Bhat, Arun Kumar
Publikováno v:
Human Molecular Genetics. 30:467-484
Isolated Microspherophakia (MSP) is an autosomal recessive disorder characterized by a smaller than normal spherical lens. Till date, LTBP2 is the only gene shown to cause MSP. We used homozygosity mapping and whole-exome sequencing and identified a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e29922a494ebd490f0410033c8c2b832
https://doi.org/10.1093/hmg/ddab061
https://doi.org/10.1093/hmg/ddab061
Autor:
Monique Verhaegen, Kaiji Fan, Martin Asslaber, Ivelina Spassova, Christian Wadsack, Nassim Ghaffari-Tabrizi-Wizsy, Eva Bernhart, Wolfgang Sattler, Vishwanath Kumble Bhat, Gerald N. Rechberger, Jürgen C. Becker, Thomas O. Eichmann, Ioanna Plastira, Ernst Malle
Publikováno v:
The Journal of investigative dermatology. 139(4)
The majority of Merkel cell carcinoma, a highly aggressive neuroendocrine cancer of the skin, is associated with Merkel cell polyomavirus infection. Polyomavirus binding, internalization, and infection are mediated by glycosphingolipids. Besides rece
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::736b9ef0381c3713b9815b5af9af909a
https://pubmed.ncbi.nlm.nih.gov/30399362
https://pubmed.ncbi.nlm.nih.gov/30399362
Autor:
Wolfgang Sattler, Jürgen C. Becker, Vishwanath Kumble Bhat, Corinna Krump, Nassim Ghaffari-Tabrizi-Wizsy, Eva Bernhart
Publikováno v:
Experimental Dermatology
In vivo tumor models are essential for studying the biology of cancer, identifying tumor targets and evaluating antitumor drugs. Considering the request for the minimisation of animal experiments and following the “3R”‐rule (“replacement,”
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a819a0619dcc751a0d19ad653da53574
https://pubmed.ncbi.nlm.nih.gov/29509994
https://pubmed.ncbi.nlm.nih.gov/29509994
Autor:
Arun Kumar, Shalmali Avinash Pradhan, Ankana Tiwari, Vishwanath Kumble Bhat, Mohammad Iqbal Rather
Publikováno v:
Nucleic Acids Research
The TSC2 gene, mutated in patients with tuberous sclerosis complex (TSC), encodes a 200 kDa protein TSC2 (tuberin). The importance of TSC2 in the regulation of cell growth and proliferation is irrefutable. TSC2 in complex with TSC1 negatively regulat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::555fa0634dd6577564474d924219b4bf
http://europepmc.org/articles/PMC4041451
http://europepmc.org/articles/PMC4041451
Autor:
Mohd Hussain Shah, Pradeep Kallollimath, Parayil Sankaran Bindu, Arun Kumar, Nivedita Singh, Sanjib Sinha, Saketh Kapoor, Madhu Nagappa, Lakshminarayanapuram Gopal Viswanathan, Vishwanath Kumble Bhat, Arun B Taly
Publikováno v:
PLoS ONE
PLoS ONE, Vol 14, Iss 5, p e0215779 (2019)
PLoS ONE, Vol 14, Iss 5, p e0215779 (2019)
Wilson disease (WD) is an autosomal recessive disorder, characterized by excessive deposition of copper in various parts of the body, mainly in the liver and brain. It is caused by mutations in ATP7B. We report here the genetic analysis of 102 WD fam
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5cda21b56db2e902e8545dba1d51cf9
https://doi.org/10.1371/journal.pone.0215779
https://doi.org/10.1371/journal.pone.0215779
Autor:
Srinivas G. Kodaganur, Vishwanath Kumble Bhat, Sagar J. Tontanahal, Astha Sarda, Mohd Hussain Shah, Arun Kumar
Publikováno v:
Clinical Dysmorphology. 22:54-58
The objective of this study was to report the clinical phenotype and genetic analysis of two Indian families with Escobar syndrome (ES). The diagnosis of ES in both families was made on the basis of published clinical features. Blood samples were col
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33521289111b9dbee7b8071e3202171a
https://doi.org/10.1097/mcd.0b013e32835f9ac0
https://doi.org/10.1097/mcd.0b013e32835f9ac0
Autor:
Nivedita Singh, Sagar J. Tontanahal, Vishwanath Kumble Bhat, Arun Kumar, Astha Sarda, K.V. Malini, Ankana Tiwari, Srinivas G. Kodaganur
Publikováno v:
Human molecular genetics. 26(6)
Anencephaly (APH) is characterized by the absence of brain tissues and cranium. During primary neurulation stage of the embryo, the rostral part of the neural pore fails to close, leading to APH. APH shows a heterogeneous etiology, ranging from envir
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99a1fc28ef305d66622615b83f270484
https://pubmed.ncbi.nlm.nih.gov/28087737
https://pubmed.ncbi.nlm.nih.gov/28087737
Autor:
G. Mohan, Sc Girimaji, Arun Kumar, Duvvari, Vishwanath Kumble Bhat, Hr Arvinda, Pooja Singhmar
Publikováno v:
Clinical Genetics. 80:532-540
Primary microcephaly is an autosomal recessive disorder characterized by smaller than normal brain size and mental retardation. It is genetically heterogeneous with seven loci: MCPH1-MCPH7. We have previously reported genetic analysis of 35 families,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa008f99b4862d959c55e7557ad3a477
https://doi.org/10.1111/j.1399-0004.2011.01686.x
https://doi.org/10.1111/j.1399-0004.2011.01686.x
Autor:
Sanjib Sinha, Madhu Nagappa, Gayathri Narayanappa, Vishwanath Kumble Bhat, Nivedita Singh, Saketh Kapoor, Arun Kumar, Mohammad Iqbal Rather, Anita Mahadevan, Yasha T Chickabasaviah, Sindhura Gopinath, Parayil Sankaran Bindu, Rose Dawn Bharath, Arun B Taly, Mohd Hussain Shah
Publikováno v:
PLoS ONE
PLoS ONE, Vol 11, Iss 5, p e0155605 (2016)
PLoS ONE, Vol 11, Iss 5, p e0155605 (2016)
Mutations in PLA2G6 were identified in patients with a spectrum of neurodegenerative conditions, such as infantile neuroaxonal dystrophy (INAD), atypical late-onset neuroaxonal dystrophy (ANAD) and dystonia parkinsonism complex (DPC). However, there
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a56e6ca7b5c1834e8657e6bb1e291507
https://pubmed.ncbi.nlm.nih.gov/27196560
https://pubmed.ncbi.nlm.nih.gov/27196560