Zobrazeno 1 - 10
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pro vyhledávání: '"Periyasamy Radhakrishnan"'
Autor:
Farooqui, Sheeba, Narayanan, Dhanya Lakshmi, Mascarenhas, Selinda, do Rosario, Michelle C., Nair, Karthik Vijay, Periyasamy, Radhakrishnan, Shukla, Anju
Publikováno v:
American Journal of Medical Genetics. Part A; May2024, Vol. 194 Issue 5, p1-5, 5p
Akademický článek
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Autor:
Tess Holling, Sheela Nampoothiri, Bedirhan Tarhan, Pauline E. Schneeberger, Kollencheri Puthenveettil Vinayan, Dhanya Yesodharan, Arun Grace Roy, Periyasamy Radhakrishnan, Malik Alawi, Lindsay Rhodes, Katta Mohan Girisha, Peter B. Kang, Kerstin Kutsche
Publikováno v:
European Journal of Human Genetics
The sodium (Na+):multivitamin transporter (SMVT), encoded by SLC5A6, belongs to the sodium:solute symporter family and is required for the Na+-dependent uptake of biotin (vitamin B7), pantothenic acid (vitamin B5), the vitamin-like substance α-lipoi
Autor:
Sheela Nampoothiri, Jeanne Maria Dsouza, Dhanya Yesodharan, Katta M. Girisha, Malini Eapen, Sajitha Sivasankaran Nair, Bhanu Vikraman Pillai, Periyasamy Radhakrishnan
Publikováno v:
Clinical Genetics. 103:369-370
Autor:
Debasish Kumar Ghosh, Shruti Pande, Jeevan Kumar, Dhanya Yesodharan, Sheela Nampoothiri, Periyasamy Radhakrishnan, Chilakala Gangi Reddy, Akash Ranjan, Katta M. Girisha
Publikováno v:
Aging cell. 21(11)
Deleterious, mostly de novo, mutations in the lamin A (LMNA) gene cause spatio-functional nuclear abnormalities that result in several laminopathy-associated progeroid conditions. In this study, exome sequencing in a sixteen-year-old male with manife
Publikováno v:
American Journal of Medical Genetics Part A. 182:804-807
Fetal akinesia deformation sequence (FADS) is a clinically and genetically heterogeneous condition. Pathogenic variants in DOK7 are known to cause myasthenic syndrome, congenital, 10 (MIM#254300) and, rarely (reported in a single family) lethal FADS.
Autor:
Priyanka Upadhyai, Neethukrishna Kausthubham, Periyasamy Radhakrishnan, Vishal Singh Guleria, Andrea Superti-Furga, Katta M. Girisha, Shalini S. Nayak
Publikováno v:
Human mutationREFERENCES. 42(8)
Biallelic loss of function variants in TRIP11 encoding for the Golgi microtubule-associated protein 210 (GMAP-210) cause the lethal chondrodysplasia achondrogenesis type 1A (ACG1A). Loss of TRIP11 activity has been shown to impair Golgi structure, ve
Publikováno v:
Clinical Genetics. 96:560-565
Meckel syndrome (MKS) is a perinatally lethal, genetically heterogeneous, autosomal recessive condition caused by defective primary cilium formation leading to polydactyly, multiple cysts in kidneys and malformations of nervous system. We performed e
Autor:
Katta M. Girisha, Naveenchandra M. Shetty, Anju Shukla, Shruti Pande, Periyasamy Radhakrishnan
Publikováno v:
Am J Med Genet A
This study includes previous reports of four affected individuals from two unrelated families with hedgehog acyl-transferase (HHAT)-related multiple congenital anomaly syndrome. Microcephaly, small cerebellar vermis, holoprosencephaly, agenesis of co
Autor:
Arthur S. Aylsworth, Kathryn M. Shively, Kati J. Buckingham, Mariam Al-Mulla, Paul M.L. Janssen, Periyasamy Radhakrishnan, Julien Fauré, Klaus Dieterich, Deborah A. Nickerson, Tawfeg Ben-Omran, Francesca Inzana, Emily M Teets, Yline Capri, Xenia Latypova, David M. Warshaw, Tamar Harel, Brit L. Martin, Ulrich A. Schatz, Katta M. Girisha, Sharon L. Amacher, Michael J. Bamshad, Reem Saadeh-Haddad, John Rendu, Hagar Mor-Shaked, Colby T. Marvin, Anju Shukla, Shalini S. Nayak, Samantha Beck Previs, Jessica X. Chong, Fatima Almusafri, Jared C. Talbot
Publikováno v:
Am J Hum Genet
We identified ten persons in six consanguineous families with Distal Arthrogryposis (DA) who had congenital contractures, scoliosis, and short stature. Exome sequencing revealed that each affected person was homozygous for one of two different rare v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0b23bc28fe1f7737e218e54ee40affc
https://europepmc.org/articles/PMC7413889/
https://europepmc.org/articles/PMC7413889/