Search Results - "Gupta, Nalini J"

High frequencies of Non Allelic Homologous Recombination (NAHR) events at the AZF loci and male infertility risk in Indian men by Rani, Deepa Selvi, Rajender, Singh, Pavani, Kadupu, Chaubey, Gyaneshwer, Rasalkar, Avinash A., Gupta, Nalini J., Deendayal, Mamta, Chakravarty, Baidyanath, Thangaraj, Kumarasamy

“…Deletions in the AZoospermia Factor (AZF) regions (spermatogenesis loci) on the human Y chromosome are reported as one of the most common causes of severe…”
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TEX13B is essential for metabolic reprogramming during germ cell differentiation by Kumar, Umesh, Sudhakar, Digumarthi V S, Kumar, Nithyapriya, Moitra, Anurupa, Kale, Hanuman T, Jha, Rajan Kumar, Rawat, Shivali, Verma, Geetika, Gupta, Nalini J, Deenadayal, Mamata, Tolani, Aarti Deenadayal, Raychaudhuri, Swasti, Chandra Shekar, P, Thangaraj, Kumarasamy

“…What is the functional significance of Tex13b in male germ cell development and differentiation? Tex13b regulates male germ cell differentiation by metabolic…”
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Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility by Mehta, Poonam, Singh, Priyamvada, Gupta, Nalini J., Sankhwar, Satya Narayan, Chakravarty, Baidyanath, Thangaraj, Kumarasamy, Rajender, Singh

“…Purpose To identify the contribution of mutations in the Desert Hedgehog ( DHH ) gene to the disorders of sexual differentiation (DSD) and male infertility…”
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Exome sequencing and functional analyses revealed CETN1 variants leads to impaired cell division and male fertility by Sudhakar, Digumarthi V S, Phanindranath, Regur, Jaishankar, Shveta, Ramani, Anand, Kalamkar, Kaustubh P, Kumar, Umesh, Pawar, Asmita D, Dada, Rima, Singh, Rajender, Gupta, Nalini J, Deenadayal, Mamata, Tolani, Aarti Deenadayal, Sharma, Yogendra, Anand, Anuranjan, Gopalakrishnan, Jay, Thangaraj, Kumarasamy

“…Human spermatogenesis requires an orchestrated expression of numerous genes in various germ cell subtypes. Therefore, the genetic landscape of male infertility…”
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Ala 586 Asp mutation in androgen receptor disrupts transactivation function without affecting androgen binding by Rajender, Singh, Ph.D, Gupta, Nalini J., Ph.D, Chakrabarty, Baidyanath, M.D, Singh, Lalji, Ph.D, Thangaraj, Kumarasamy, Ph.D

“…Objective To understand the pathogenesis of the androgen insensitivity syndrome. Design Familial case study. Setting Medical and Evolutionary Genetics…”
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Surgical correction of rare Müllerian anomalies and spontaneous pregnancies: a case report by Ganesh, Ashalatha, M.B.B.S., M.M.S.T, Gupta, Nalini J., Ph.D, Chakravarty, Baidyanath, M.D., F.R.C.O.G

“…Objective To surgically reconstruct rare Müllerian duct anomalies with varying degrees of bladder exstrophy and congenital absence of ampullary portion of…”
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Repeated implantation failure versus repeated implantation success: discrimination at a metabolomic level by RoyChoudhury, Sourav, Singh, Apoorva, Gupta, Nalini J., Srivastava, Sudha, Joshi, Mamata V., Chakravarty, Baidyanath, Chaudhury, Koel

“…Abstract STUDY QUESTION Is there any difference at the serum metabolic level between women with recurrent implantation failure (RIF) and women with recurrent…”
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Androgen insensitivity syndrome： do trinucleotide repeats in androgen receptor gene have any role by Rajender, Singh, Gupta, Nalini J., Chakravarty, Baidyanath, Singh, Lalji, Thangaraj, Kumarasamy

“…Aim： To investigate the role of CAG and GGN repeats as genetic background affecting androgen insensitivity syndrome （AIS） phenotype. Methods： We analyzed…”
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Mutations in the prostate specific antigen (PSA/KLK3) correlate with male infertility by Gupta, Nishi, Sudhakar, Digumarthi V. S., Gangwar, Pravin Kumar, Sankhwar, Satya Narayan, Gupta, Nalini J., Chakraborty, Baidyanath, Thangaraj, Kumarasamy, Gupta, Gopal, Rajender, Singh

“…Prostate specific antigen (PSA/KLK3) is known to be the chief executor of the fragmentation of semenogelins, dissolution of semen coagulum, thereby releasing…”
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L712V mutation in the androgen receptor gene causes complete androgen insensitivity syndrome due to severe loss of androgen function by Rajender, Singh, Gupta, Nalini J., Chakrabarty, Baidyanath, Singh, Lalji, Thangaraj, Kumarasamy

“…[Display omitted] •Identified a causative mutation in a case of complete androgen insensitivity syndrome.•Established the functional loss associated with this…”
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A novel missense mutation C11994T in the mitochondrial ND4 gene as a cause of low sperm motility in the Indian subcontinent by Selvi Rani, Deepa, Vanniarajan, Ayyasamy, Gupta, Nalini J, Chakravarty, Baidyanath, Singh, Lalji, Thangaraj, Kumarasamy

“…We have analyzed the mitochondrial DNA of 34 oligoasthenozoospermic men along with 150 normozoospermic fertile men from the Indian subcontinent. A novel…”
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SRY-negative 46,XX male with normal genitals, complete masculinization and infertility by Rajender, Singh, Rajani, Vutukuri, Gupta, Nalini J., Chakravarty, Baidyanath, Singh, Lalji, Thangaraj, Kumarasamy

“…XX maleness is a rare syndrome with a frequency of 1 in 20 000–25 000 males. XX males exist in different clinical categories with ambiguous genitalia or…”
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C601S mutation in the androgen receptor results in partial loss of androgen function by Singh, Rajender, Singh, Pooja, Gupta, Nalini J., Chakrabarty, Baidyanath, Singh, Lalji, Thangaraj, Kumarasamy

“…The present study was undertaken on a case of partial androgen insensitivity syndrome to look at the etiology of the disorder. The patient exhibited a female…”
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Mitochondrial DNA variations associated with recurrent pregnancy loss among Indian women by Vanniarajan, Ayyasamy, Govindaraj, Periyasamy, Carlus, S Justin, Aruna, Meka, Aruna, P, Kumar, Ajay, Jayakar, Richard Issac, Lionel, Anath C, Gupta, Sandeep, Rao, Lakshmi, Gupta, Nalini J, Chakravarthy, Baidyanath, Deenadayal, Mamatha, Selvaraj, Kamala, Andal, Sadaranga, Reddy, B Mohan, Singh, Lalji, Thangaraj, Kumarasamy

“…Several genetic factors have been found to be associated with recurrent pregnancy loss (RPL). However, not many attempts have been made to associate the…”
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G708E Mutation in the Androgen Receptor Results in Complete Loss of Androgen Function by Rajender, Singh, Pooja, Singh, Gupta, Nalini J., Chakrabarty, Baidyanath, Singh, Lalji, Thangaraj, Kumarasamy

“…End‐organ resistance to androgens, called androgen insensitivity syndrome (AIS), is a rare disorder. The most common cause of AIS is mutations(s) in the…”
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CAG Repeat Expansion in the Androgen Receptor Gene Is Not Associated With Male Infertility in Indian Populations by Thangaraj, Kumarasamy, Joshi, Manjunath B, Reddy, Alla G, Gupta, Nalini J, Chakravarty, Baidyanath, Singh, Lalji

“…CAG repeat expansion in exon 1 of the androgen receptor (AR) gene has been reported to be associated with male infertility in some but not all populations…”
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A Novel Human Sex-Determining Gene Linked to Xp11.21-11.23 by Rajender, Singh, Thangaraj, Kumarasamy, Gupta, Nalini J., Leelavathy, N., Rani, Deepa Selvi, Nambiar, Renjini G., Kalavathy, Vadivelu, Santhiya, Sathiyavedu T., Rajangam, Sayee, Gopinath, Puthiya M., Chakravarty, Baidyanath, Singh, Lalji

“…Context: The molecular basis for about 70–80% of 46,XY sex-reversed females remains unexplained, because they carry normal copies of the genes (SRY, SOX9,…”
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No Association of Androgen Receptor GGN Repeat Length Polymorphism With Infertility in Indian Men by Rajender, Singh, Rajani, Vutukuri, Gupta, Nalini J, Chakravarty, Baidyanath, Singh, Lalji, Thangaraj, Kumarasamy

“…Androgens, acting through the androgen receptor (AR), play a role in secondary sexual differentiation from the prenatal stage to adulthood, including…”
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Novel Variants in UBE2B Gene and Idiopathic Male Infertility by Suryavathi, Viswanadhapalli, Khattri, Arun, Gopal, Kaliappan, Rani, Deepa Selvi, Panneerdoss, Subbarayalu, Gupta, Nalini J, Chakravarty, Baidyanath, Deenadayal, Mamta, Singh, Lalji, Thangaraj, Kumarasamy

“…The UBE2B gene encodes ubiquitin‐conjugating enzyme, which is involved in DNA repair. Ube2b knockout mice were found to be infertile because of structural…”
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CAG repeat variation in the mtDNA polymerase γ is not associated with oligoasthenozoospermia by Rani, Deepa Selvi, Carlus, S. Justin, Poongothai, J, Jyothi, Amara, Pavani, Kadupa, Gupta, Nalini J, Reddy, Alla G, Rajan, M. Mamtha, Rao, Kamini, Chakravarty, Baidyanath, Singh, Lalji, Thangaraj, Kumarasamy

“…Variations in the trinucleotide-CAG repeat number of the catalytic subunit of the mitochondrial DNA polymerase gamma (POLG) have been speculated to be…”
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