Results 51 to 60 of about 37,506 (300)

De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder

Human Mutation, Volume 43, Issue 12, Page 1844-1851, December 2022., 2022
Abstract TATA‐binding protein associated factor 4 (TAF4) is a subunit of the Transcription Factor IID (TFIID) complex, a central player in transcription initiation. Other members of this multimeric complex have been implicated previously as monogenic disease genes in human developmental disorders.
Beau D. E. Janssen, Marie‐Jose H. van den Boogaard, Klaske Lichtenbelt, Eleanor G. Seaby, Karen Stals, Sian Ellard, Ruth Newbury‐Ecob, Abhijit Dixit, Laura Roht, Sander Pajusalu, Katrin Õunap, Helen V. Firth, Michael Buckley, Meredith Wilson, Tony Roscioli, Timothy Tidwell, Rong Mao, Sarah Ennis, Sjoerd J. Holwerda, Koen van Gassen, Richard H. van Jaarsveld   +20 more
wiley   +1 more source

Zika virus infection and microcephaly: Evidence regarding geospatial associations. [PDF]

PLoS Neglected Tropical Diseases, 2018
BACKGROUND:Although the Zika virus (ZIKV) epidemic ceased to be a public health emergency by the end of 2016, studies to improve knowledge about this emerging disease are still needed, especially those investigating a causal relationship between ZIKV in ...
João Ricardo Nickenig Vissoci, Thiago Augusto Hernandes Rocha, Núbia Cristina da Silva, Rejane Christine de Sousa Queiroz, Erika Bárbara Abreu Fonseca Thomaz, Pedro Vasconcelos Maia Amaral, Adriana Lein, Maria Dos Remédios Freitas Carvalho Branco, José Aquino, Zulimar Márita Ribeiro Rodrigues, Antônio Augusto Moura da Silva, Catherine Staton   +11 more
doaj   +1 more source

Emerging concepts involving inhibitory and activating RNA functionalization towards the understanding of microcephaly phenotypes and brain diseases in humans

Frontiers in Cell and Developmental Biology, 2023
Microcephaly is characterized as a small head circumference, and is often accompanied by developmental disorders. Several candidate risk genes for this disease have been described, and mutations in non-coding regions are occasionally found in patients ...
Mayuri Tokunaga, Takuya Imamura
doaj   +1 more source

SelectionBias: An R Package for Bounding Selection Bias [PDF]

arXiv, 2023
Selection bias can occur when subjects are included or excluded in the analysis based upon some selection criteria for the study population. The bias can jeopardize the validity of the study and sensitivity analyses for assessing the effect of the selection are desired. One method of sensitivity analysis is to construct bounds for the bias.
arxiv  

Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy

Human Mutation, Volume 43, Issue 12, Page 1898-1908, December 2022., 2022
Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy Abstract MORC2 gene encodes a ubiquitously expressed nuclear protein involved in chromatin remodeling, DNA repair, and transcriptional regulation. Heterozygous mutations in MORC2 gene have been associated with a spectrum of
Arnaud Jacquier, Shams Ribault, Michel Mendes, Nicolas Lacoste, Valérie Risson, Julien Carras, Philippe Latour, Aleksandra Nadaj‐Pakleza, Tanya Stojkovic, Laurent Schaeffer   +9 more
wiley   +1 more source

ETIOLOGY, DIAGNOSIS, AND MANAGEMENT OF CHILDHOOD MICROCEPHALY: A SINGLE-CENTER RETROSPECTIVE STUDY

Malang Neurology Journal, 2022
Background: Microcephaly is a condition that causes a reduction in brain volume as well as cognitive and motor impairments. It can be seen alone or in conjunction with a variety of genetic disorders and environmental factors.
Deniz Güven, Didem Ardıçlı, Dilek Sarıcı   +2 more
doaj   +1 more source

Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy

Human Mutation, Volume 43, Issue 12, Page 1970-1978, December 2022., 2022
Abstract Primary mitochondrial diseases are a group of genetically and clinically heterogeneous disorders resulting from oxidative phosphorylation (OXPHOS) defects. COX11 encodes a copper chaperone that participates in the assembly of complex IV and has not been previously linked to human disease. In a previous study, we identified that COX11 knockdown
Rocio Rius, Neal K. Bennett, Kaustuv Bhattacharya, Lisa G. Riley, Zafer Yüksel, Luke E. Formosa, Alison G. Compton, Russell C. Dale, Mark J. Cowley, Velimir Gayevskiy, Saeed M. Al Tala, Abdulrahman A. Almehery, Michael T. Ryan, David R. Thorburn, Ken Nakamura, John Christodoulou   +15 more
wiley   +1 more source

Feeding characteristics and growth among children with prenatal exposure to Zika virus with and without microcephaly in the microcephaly epidemic research group pediatric cohort

BMC Pediatrics
Objective To describe the feeding characteristics and growth of children with prenatal exposure to Zika virus (ZIKV) from birth to 48 months. Design Using data from the prospective Microcephaly Epidemic Research Group Pediatric Cohort (MERG-PC), children
Danielle Maria da Silva Oliveira, Demócrito de Barros Miranda-Filho, Ricardo Arraes de Alencar Ximenes, Ulisses Ramos Montarroyos, Elizabeth B. Brickley, Maria Helena Teixeira Pinto, Celina Maria Turchi Martelli, Regina Coeli Ramos, Thalia Velho Barreto de Araújo, Sophie Helena Eickmann, Paula Fabiana Sobral da Silva, Maria Durce Costa Gomes Carvalho, Olga Sophia de Sousa Martins, Ana Célia Oliveira dos Santos   +13 more
doaj   +1 more source

Destabilization of mutated human PUS3 protein causes intellectual disability

Human Mutation, Volume 43, Issue 12, Page 2063-2078, December 2022., 2022
The homodimer of pseudouridine synthase 3 converts uridines at position 39 in tRNAs to pseudouridine (ψ), which affects tRNA stability and regulates RNA–protein interactions. Several patient‐derived variants of PUS3 have been associated with neurodegenerative diseases.
Ting‐Yu Lin, Robert Smigiel, Bozena Kuzniewska, Joanna J. Chmielewska, Joanna Kosińska, Mateusz Biela, Anna Biela, Anna Kościelniak, Dominika Dobosz, Izabela Laczmanska, Andrzej Chramiec‐Głąbik, Jakub Jeżowski, Jakub Nowak, Monika Gos, Sylwia Rzonca‐Niewczas, Magdalena Dziembowska, Rafał Ploski, Sebastian Glatt   +17 more
wiley   +1 more source

Congenital microcephaly unrelated to flavivirus exposure in coastal Kenya [version 1; peer review: 2 approved, 1 approved with reservations]

Wellcome Open Research, 2019
Background: Zika virus (ZIKV) was first discovered in East Africa in 1947.  ZIKV has caused microcephaly in the Americas, but it is not known whether ZIKV is a cause of microcephaly in East Africa.
Hellen C. Barsosio, John N. Gitonga, Henry K. Karanja, Doris K. Nyamwaya, Donwilliams O. Omuoyo, Everlyn Kamau, Mainga M. Hamaluba, Joyce U. Nyiro, Barnes S. Kitsao, Amek Nyaguara, Stella Mwakio, Charles R. Newton, Rosemary Sang, Daniel Wright, Eduard J. Sanders, Anna C. Seale, Charles N. Agoti, James A. Berkley, Philip Bejon, George M. Warimwe   +19 more
doaj   +1 more source