Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Shveta Jaishankar"'
Autor:
Digumarthi V S Sudhakar, Regur Phanindranath, Shveta Jaishankar, Anand Ramani, Kaustubh P Kalamkar, Umesh Kumar, Asmita D Pawar, Rima Dada, Rajender Singh, Nalini J Gupta, Mamata Deenadayal, Aarti Deenadayal Tolani, Yogendra Sharma, Anuranjan Anand, Jay Gopalakrishnan, Kumarasamy Thangaraj
Publikováno v:
Human Molecular Genetics. 32:533-542
Human spermatogenesis requires an orchestrated expression of numerous genes in various germ cell subtypes. Therefore, the genetic landscape of male infertility is highly complex. Known genetic factors alone account for at least 15% of male infertilit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::493cd9d4e05529f86160163f96acc6a2
https://doi.org/10.1093/hmg/ddac216
https://doi.org/10.1093/hmg/ddac216
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