Zobrazeno 1 - 10
of 450
pro vyhledávání: '"John B, Vincent"'
Autor:
Hamid Khan, Ricardo Harripaul, Anna Mikhailov, Sumayah Herzi, Sonya Bowers, Muhammad Ayub, Muhammad Imran Shabbir, John B. Vincent
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract With its high rate of consanguineous marriages and diverse ethnic population, little is currently understood about the genetic architecture of autism spectrum disorder (ASD) in Pakistan. Pakistan has a highly ethnically diverse population, y
Externí odkaz:
https://doaj.org/article/c0a0fa5ec9c24957836e4148a61322bb
Autor:
Stephen F. Pastore, Tahir Muhammad, Cassandra Stan, Paul W. Frankland, Paul A. Hamel, John B. Vincent
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-12 (2023)
Abstract Patched domain-containing 1 (PTCHD1) is a well-established susceptibility gene for autism spectrum disorder (ASD) and intellectual disability (ID). Previous studies have suggested that alterations in the dosage of PTCHD1 may contribute to th
Externí odkaz:
https://doaj.org/article/e2b402f452ae4fe293ad5aed22f41abf
Autor:
Rebecca S. F. Mok, Wenbo Zhang, Taimoor I. Sheikh, Kartik Pradeepan, Isabella R. Fernandes, Leah C. DeJong, Gabriel Benigno, Matthew R. Hildebrandt, Marat Mufteev, Deivid C. Rodrigues, Wei Wei, Alina Piekna, Jiajie Liu, Alysson R. Muotri, John B. Vincent, Lyle Muller, Julio Martinez-Trujillo, Michael W. Salter, James Ellis
Publikováno v:
Translational Psychiatry, Vol 12, Iss 1, Pp 1-16 (2022)
Abstract Rett syndrome (RTT) is a severe neurodevelopmental disorder primarily caused by heterozygous loss-of-function mutations in the X-linked gene MECP2 that is a global transcriptional regulator. Mutations in the methyl-CpG binding domain (MBD) o
Externí odkaz:
https://doaj.org/article/d539f76d9ee84f05a36dd38c22599078
Publikováno v:
Cells, Vol 13, Iss 2, p 199 (2024)
PTCHD1 has been implicated in Autism Spectrum Disorders (ASDs) and/or intellectual disability, where copy-number-variant losses or loss-of-function coding mutations segregate with disease in an X-linked recessive fashion. Missense variants of PTCHD1
Externí odkaz:
https://doaj.org/article/dc1796fa404748b788b648b9d47c9e66
Autor:
Stephen F. Pastore, Tahir Muhammad, Ricardo Harripaul, Rebecca Lau, Muhammad Tariq Masood Khan, Muhammad Ismail Khan, Omar Islam, Changsoo Kang, Muhammad Ayub, Musharraf Jelani, John B. Vincent
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract In a multi-branch family from Pakistan, individuals presenting with palmoplantar keratoderma segregate in autosomal dominant fashion, and individuals with intellectual disability (ID) segregate in apparent autosomal recessive fashion. Initia
Externí odkaz:
https://doaj.org/article/2ba8a4534d8c463e94a9689d1d8a2244
Autor:
Memoona Rasheed, Valeed Khan, Ricardo Harripaul, Maimoona Siddiqui, Madiha Amin Malik, Zahid Ullah, Muhammad Zahid, John B. Vincent, Muhammad Ansar
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-12 (2021)
Abstract Background Intellectual disability (ID) is a phenotypically and genetically heterogeneous disorder. Methods In this study, genome wide SNP microarray and whole exome sequencing are used for the variant identification in eight Pakistani famil
Externí odkaz:
https://doaj.org/article/895309951fb34a2eb4c3272e7450a373
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:
Michael E. Van Nuland, John B. Vincent, Ian M. Ware, Liam O. Mueller, Shannon L. J. Bayliss, Kendall K. Beals, Jennifer A. Schweitzer, Joseph K. Bailey
Publikováno v:
Ecology and Evolution, Vol 10, Iss 9, Pp 3856-3867 (2020)
Abstract Global change is widely altering environmental conditions which makes accurately predicting species range limits across natural landscapes critical for conservation and management decisions. If climate pressures along elevation gradients inf
Externí odkaz:
https://doaj.org/article/d2fe5b4da82b408a9744b005275b058c
Autor:
Alexia Martínez de Paz, Leila Khajavi, Hélène Martin, Rafael Claveria-Gimeno, Susanne Tom Dieck, Manjinder S. Cheema, Jose V. Sanchez-Mut, Malgorzata M. Moksa, Annaick Carles, Nick I. Brodie, Taimoor I. Sheikh, Melissa E. Freeman, Evgeniy V. Petrotchenko, Christoph H. Borchers, Erin M. Schuman, Matthias Zytnicki, Adrian Velazquez-Campoy, Olga Abian, Martin Hirst, Manel Esteller, John B. Vincent, Cécile E. Malnou, Juan Ausió
Publikováno v:
Epigenetics & Chromatin, Vol 12, Iss 1, Pp 1-16 (2019)
Abstract Background MeCP2—a chromatin-binding protein associated with Rett syndrome—has two main isoforms, MeCP2-E1 and MeCP2-E2, differing in a few N-terminal amino acid residues. Previous studies have shown brain region-specific expression of t
Externí odkaz:
https://doaj.org/article/77c2d4837dd042b6b9fd1383b11eace4
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Mutations in methyl CpG binding protein 2 (MeCP2) are the major cause of Rett syndrome (RTT), a rare neurodevelopmental disorder with a notable period of developmental regression following apparently normal initial development. Such MeCP2 alterations
Externí odkaz:
https://doaj.org/article/bfdf9930ffb84dd99f37307288fc5dc9