Zobrazeno 1 - 10
of 201
pro vyhledávání: '"Anju Shukla"'
Autor:
Areena H. Siddiqui, Anju Shukla
Publikováno v:
Indian Journal of Pathology and Microbiology, Vol 67, Iss 3 (2024)
Externí odkaz:
https://doaj.org/article/9b4dd15865ad4953bd7608ce64c4eeba
Autor:
Elizabeth A. Werren, Geneva R. LaForce, Anshika Srivastava, Delia R. Perillo, Shaokun Li, Katherine Johnson, Safa Baris, Brandon Berger, Samantha L. Regan, Christian D. Pfennig, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raúl Jimenez-Heredia, Elif Karakoc-Aydiner, Ahmet Ozen, Jasmin Dmytrus, Ana Krolo, Ken Corning, E. J. Prijoles, Raymond J. Louie, Robert Roger Lebel, Thuy-Linh Le, Jeanne Amiel, Christopher T. Gordon, Kaan Boztug, Katta M. Girisha, Anju Shukla, Stephanie L. Bielas, Ashleigh E. Schaffer
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)
Abstract THOC6 variants are the genetic basis of autosomal recessive THOC6 Intellectual Disability Syndrome (TIDS). THOC6 is critical for mammalian Transcription Export complex (TREX) tetramer formation, which is composed of four six-subunit THO mono
Externí odkaz:
https://doaj.org/article/377fd67c893b4d0eba289bde1408f26e
Autor:
Ashna Kumar, Michelle do Rosario, Shahyan Siddiqui, Divyani Garg, Anju Shukla, Suvasini Sharma
Publikováno v:
Annals of Movement Disorders, Vol 6, Iss 2, Pp 96-99 (2023)
Peripheral demyelinating polyneuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung’s disease is a rare genetic disorder caused by de novo variants in the SOX10 gene. The SOX10 gene is expressed in the neural crest cells during
Externí odkaz:
https://doaj.org/article/d6f41654c4e2429d8b44f90d986c9f09
Autor:
Taimoor I. Sheikh, Nasim Vasli, Stephen Pastore, Kimia Kharizi, Ricardo Harripaul, Zohreh Fattahi, Shruti Pande, Farooq Naeem, Abrar Hussain, Asif Mir, Omar Islam, Katta Mohan Girisha, Muhammad Irfan, Muhammad Ayub, Christoph Schwarzer, Hossein Najmabadi, Anju Shukla, Valentina C. Sladky, Vincent Zoran Braun, Irmina Garcia-Carpio, Andreas Villunger, John B. Vincent
Publikováno v:
Translational Psychiatry, Vol 11, Iss 1, Pp 1-13 (2021)
Abstract PIDD1 encodes p53-Induced Death Domain protein 1, which acts as a sensor surveilling centrosome numbers and p53 activity in mammalian cells. Early results also suggest a role in DNA damage response where PIDD1 may act as a cell-fate switch,
Externí odkaz:
https://doaj.org/article/59946732b5df4eecace75327ea1e1e2b
Autor:
Shalini S. Nayak, Pauline E. Schneeberger, Siddaramappa J. Patil, Karegowda M. Arun, Pujar V. Suresh, Viralam S. Kiran, Sateesh Siddaiah, Shreesha Maiya, Shrikanth K. Venkatachalagupta, Neethukrishna Kausthubham, Fanny Kortüm, Isabella Rau, Alexandra Wey-Fabrizius, Lotte Van Den Heuvel, Josephina Meester, Lut Van Laer, Anju Shukla, Bart Loeys, Katta M. Girisha, Kerstin Kutsche
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Abstract Marfan syndrome and related disorders are a group of heritable connective tissue disorders and share many clinical features that involve cardiovascular, skeletal, craniofacial, ocular, and cutaneous abnormalities. The majority of affected in
Externí odkaz:
https://doaj.org/article/f21f727d6c214802940b31d4975ffaa6
Publikováno v:
Arabian Journal of Chemistry, Vol 12, Iss 8, Pp 2133-2140 (2019)
Biologically active compounds with heteroaromatic ring system of cefotaxime sodium have been synthesized via aminomethylation reaction. The aminomethylation of cefotaxime sodium with various biologically potent sulphonamides/secondary amines was carr
Externí odkaz:
https://doaj.org/article/ada1ca251669483f99e42b1c4b4b870f
Publikováno v:
Indian Journal of Pathology and Microbiology, Vol 63, Iss 5, Pp 143-145 (2020)
Externí odkaz:
https://doaj.org/article/fb13c301c686492f8418d71faee341c8
Publikováno v:
Indian Journal of Neurosurgery, Vol 08, Iss 01, Pp 053-056 (2019)
Here, the authors describe a case of 25-year-old man diagnosed with dural plasmacytoma involving calvarium with soft tissue extension. Magnetic resonance imaging (MRI) revealed extra-axial heterogeneously enhancing soft tissue mass lesion in the left
Externí odkaz:
https://doaj.org/article/eb9ebc08dd284d65add2b2f4ff06612d
Autor:
Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, Dhairya Pancholi, Ashish Bavdekar, Ashwin Dalal, Prajnya Ranganath, Katta M Girisha, Anju Shukla, Shubha Phadke, Ratna Puri, Inusha Panigrahi, Anupriya Kaur, Mamta Muranjan, Manisha Goyal, Radha Ramadevi, Raju Shah, Sheela Nampoothiri, Sumita Danda, Chaitanya Datar, Seema Kapoor, Seema Bhatwadekar, Frenny Sheth
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-11 (2019)
Abstract Background Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect. This leads to the glucocerebrosidase enzyme deficiency and an increased accumulation of undegraded glycolipid g
Externí odkaz:
https://doaj.org/article/ed485e77876d41b99aa48a8d477af5c9
Publikováno v:
Epilepsy & Behavior Reports, Vol 16, Iss , Pp 100485- (2021)
Biallelic variants in CARS2 (Cysteinyl-tRNA synthetase 2; MIM*612800), are known to cause combined oxidative phosphorylation deficiency 27 (MIM#616672), characterized by severe myoclonic epilepsy, neuroregression and complex movement disorders. To da
Externí odkaz:
https://doaj.org/article/2756f4d280c34757bb81d43f70a29737