Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Baidyanath Chakravarthy"'
Novel NR5A1 Pathogenic Variants Cause Phenotypic Heterogeneity in 46,XY Disorders of Sex Development
Autor:
Datar Chaitanya A, Kumarasamy Thangaraj, Rajesh Khadgawat, Jaishree Dhyani, Baidyanath Chakravarthy, Shveta Jaishankar, Mamata Deenadayal, Iram Shabir, Sree Namduri, Nalini J. Gupta, Khadilkar Vaman, Anuranjan Anand, Yogendra Sharma, Digumarthi V. S. Sudhakar, Raghvendra Singh, Umesh Kumar, Usha Kabilan, Phanindranath Regur, Rima Dada
Publikováno v:
Sexual Development. 13:178-186
Steroidogenic factor 1 (NR5A1/SF1) is a key transcription factor that is known to regulate the development of adrenal glands and gonads and is also involved in steroidogenesis. Several pathogenic NR5A1 variants have been reported to cause 46,XY disor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a29aea5bc290158c4c27f1ca6a2d31b9
https://doi.org/10.1159/000505527
https://doi.org/10.1159/000505527
Novel NR5A1 Pathogenic Variants Cause Phenotypic Heterogeneity in 46,XY Disorders of Sex Development
Autor:
Digumarthi V S, Sudhakar, Shveta, Jaishankar, Phanindranath, Regur, Umesh, Kumar, Raghvendra, Singh, Usha, Kabilan, Sree, Namduri, Jaishree, Dhyani, Nalini J, Gupta, Baidyanath, Chakravarthy, Khadilkar, Vaman, Iram, Shabir, Rajesh, Khadgawat, Mamata, Deenadayal, Datar, Chaitanya A, Rima, Dada, Yogendra, Sharma, Anuranjan, Anand, Kumarasamy, Thangaraj
Publikováno v:
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. 13(4)
Steroidogenic factor 1 (NR5A1/SF1) is a key transcription factor that is known to regulate the development of adrenal glands and gonads and is also involved in steroidogenesis. Several pathogenic NR5A1 variants have been reported to cause 46,XY disor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::35fbc4ad3de776447589391db20bf5ab
https://pubmed.ncbi.nlm.nih.gov/32008008
https://pubmed.ncbi.nlm.nih.gov/32008008
Autor:
Kumarasamy Thangaraj, Sheikh Nizamuddin, J. R. Devi, G. Manisha, M. Deenadayal, Digumarthi V. S. Sudhakar, Baidyanath Chakravarthy, Lalji Singh, Nalini J. Gupta
Publikováno v:
Andrologia. 50(3)
NR5A1 or steroidogenic factor 1 (SF1) is an autosomal gene, which encodes a protein that is a member of nuclear receptor family. NR5A1 regulates the transcription of numerous genes that are expressed in hypothalamic-pituitary-gonadal axis and adrenal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acb21a362e1ba8a443fe885ebb4ef4e3
https://pubmed.ncbi.nlm.nih.gov/29265478
https://pubmed.ncbi.nlm.nih.gov/29265478
Autor:
Murthy Kanakavalli, K Lakshmi Rao, Lalji Singh, Padmalatha V Vaddamani, Nalini J. Gupta, Suryanarayana V Vedula, Baidyanath Chakravarthy, K. Anil Kumar, Mamta Deendayal
Publikováno v:
Reproductive BioMedicine Online. 11:444-448
The present study was aimed at mutational screening of the gene coding for galactose-1-phosphate uridyltransferase in females with premature ovarian failure within an Indian population. A case–control-based study approach was used. It included fema
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60f56220d1e3df2e4184e00abcbc6d11
https://doi.org/10.1016/s1472-6483(10)61137-6
https://doi.org/10.1016/s1472-6483(10)61137-6
Autor:
S. Justin Carlus, P. Aruna, Mamatha Deenadayal, Ayyasamy Vanniarajan, Kamala Selvaraj, Kumarasamy Thangaraj, Anath C. Lionel, Sadaranga Andal, Ajay Kumar, Periyasamy Govindaraj, Lalji Singh, Baidyanath Chakravarthy, B. Mohan Reddy, Sandeep Kumar Gupta, Nalini J. Gupta, Richard Issac Jayakar, Lakshmi Rao, M. Aruna
Publikováno v:
Mitochondrion. 11(3)
Several genetic factors have been found to be associated with recurrent pregnancy loss (RPL). However, not many attempts have been made to associate the mitochondrial DNA (mtDNA) variations with RPL. Therefore, we have analyzed the complete mtDNA of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::880417dac5a2189ef8b82c730d4de60a
https://pubmed.ncbi.nlm.nih.gov/21292039
https://pubmed.ncbi.nlm.nih.gov/21292039