Results 111 to 120 of about 236,698 (345)

Perspectives on the Genomics of HSP Beyond Mendelian Inheritance

Frontiers in Neurology, 2018
Hereditary Spastic Paraplegia is an extraordinarily heterogeneous disease caused by over 50 Mendelian genes. Recent applications of next-generation sequencing, large scale data analysis, and data sharing/matchmaking, have discovered a quickly expanding ...
Dana M. Bis-Brewer, Dana M. Bis-Brewer, Stephan Züchner, Stephan Züchner   +3 more
doaj   +1 more source

Estimating Malaria Vaccine Efficacy in the Absence of a Gold Standard Case Definition: Mendelian Factorial Design [PDF]

arXiv, 2019
Accurate estimates of malaria vaccine efficacy require a reliable definition of a malaria case. However, the symptoms of clinical malaria are unspecific, overlapping with other childhood illnesses. Additionally, children in endemic areas tolerate varying levels of parasitemia without symptoms.
arxiv  

HDL‐Apolipoprotein in Alzheimer's Disease Revisited: From Periphery to CNS

AGING MEDICINE, EarlyView.
HDL‐apolipoproteins in the periphery and CNS contribute differently to Alzheimer's disease, influencing Aβ, p‐tau, brain structures, and cognition. Apolipoprotein AI and E, key HDL components in blood and CSF, may either protect against or accelerate AD, depending on their location. Created with BioGDP.com. ABSTRACT High‐density lipoprotein (HDL), as a
Yihong Huang, Jingyi Tang, Guohua Chen, Qiangqiang Wu, Yongfei Wang, Jianjun Chen, Simei Chen, Jun Liu, Xiaoyun Huang   +8 more
wiley   +1 more source

Rare surfactant‐related variants in familial and sporadic pulmonary fibrosis

Human Mutation, Volume 43, Issue 12, Page 2091-2101, December 2022., 2022
Abstract The role of constitutional genetic defects in idiopathic pulmonary fibrosis (IPF) is increasingly appreciated. Monogenic disorders associated with IPF affect two pathways: telomere maintenance, accounting for approximately 10% of all patients with IPF, and surfactant biology, responsible for 1%–3% of cases and often co‐occurring with lung ...
Rachel M. Sutton, Humberto Trejo Bittar, Daniel I. Sullivan, Agustin Gil Silva, Harinath Bahudhanapati, Anishka H. Parikh, Yingze Zhang, Kevin Gibson, John F. McDyer, Daniel J. Kass, Jonathan K. Alder   +10 more
wiley   +1 more source

Shared etiology of Mendelian and complex disease supports drug discovery

BMC Medical Genomics
Background Drugs targeting disease causal genes are more likely to succeed for that disease. However, complex disease causal genes are not always clear. In contrast, Mendelian disease causal genes are well-known and druggable.
Panagiotis N. Lalagkas, Rachel D. Melamed   +1 more
doaj   +1 more source

Contextualizing selection bias in Mendelian randomization: how bad is it likely to be? [PDF]

arXiv, 2018
Selection bias affects Mendelian randomization investigations when selection into the study sample depends on a collider between the genetic variant and confounders of the risk factor-outcome association. However, the relative importance of selection bias for Mendelian randomization compared to other potential biases is unclear.
arxiv  

Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel

Human Mutation, Volume 43, Issue 12, Page 2170-2186, December 2022., 2022
Abstract The standardization of variant curation criteria is essential for accurate interpretation of genetic results and clinical care of patients. The variant curation guidelines developed by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) in 2015 are widely used but are not gene specific.
Kathryn P. Burdon, Patricia Graham, Johanna Hadler, John D. Hulleman, Francesca Pasutto, Erin A. Boese, Jamie E. Craig, John H. Fingert, Alex W. Hewitt, Owen M. Siggs, Kristina Whisenhunt, Terri L. Young, David A. Mackey, Andrew Dubowsky, Emmanuelle Souzeau   +14 more
wiley   +1 more source

Genomic selection in oil palm (Elaeis guineensis Jacq.) [PDF]

, 2014
Genomic selection (GS) can increase the genetic gain in plants. In perennial crops, this can be achieved via shortened breeding cycles and increased selection intensity. Our objective was to obtain the first empirical estimate of GS accuracy in oil palm (
Bouvet, Jean-Marc, Cochard, Benoît, Cros, David, Denis, Marie, Durand-Gasselin, Tristan, Flori, Albert, Nouy, Bruno, Omoré, Alphonse, Pomies, Virginie, Riou, Virginie, Sanchez, Leopoldo, Suryana, Edyana   +11 more
core  

Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality

Human Mutation, Volume 43, Issue 12, Page 2205-2221, December 2022., 2022
Mutation frequency heat map of spontaneous PTPN11 variants show spatial clustering in the testis due to germline selection explaining the high birth incidence of Noonan syndrome. Some somatic PTPN11 cancer mutations are similarly clustered in testis. Abstract Some spontaneous germline gain‐of‐function mutations promote spermatogonial stem cell clonal ...
Jordan Eboreime, Soo‐Kyung Choi, Song‐Ro Yoon, Anastasiia Sadybekov, Vsevolod Katritch, Peter Calabrese, Norman Arnheim   +6 more
wiley   +1 more source

VariantAlert: A web‐based tool to notify updates in genetic variant annotations

Human Mutation, Volume 43, Issue 12, Page 1808-1815, December 2022., 2022
Abstract The reinterpretation of variants based on updated annotations is part of the routine work of research laboratories: the more data is collected about a specific variant, the higher the probability to reinterpret its classification. To support this task, we developed VariantAlert, a web‐based tool to help researchers and clinicians to be ...
Rossano Atzeni, Matteo Massidda, Giorgio Fotia, Paolo Uva   +3 more
wiley   +1 more source