Zobrazeno 1 - 10
of 643
pro vyhledávání: '"Oligogenic"'
Autor:
Hongyu Chen, Guangjie Chen, Fengxia Li, Yong Huang, Linfeng Zhu, Yijun Zhao, Ziyi Jiang, Xiang Yan, Lan Yu
Publikováno v:
Biology of Sex Differences, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract Purpose 46,XY disorders of sex development (46,XY DSD) are characterized by incomplete masculinization of genitalia with reduced androgenization. Accurate clinical management remains challenging, especially based solely on physical examinati
Externí odkaz:
https://doaj.org/article/73c986443fd64155b71cee6df2586e80
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Acute intermittent porphyria (AIP) is caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS), a key enzyme in the heme biosynthesis pathway. AIP is an autosomal dominant disorder characterized by low penetrance and a highly hete
Externí odkaz:
https://doaj.org/article/845507bc8e9943c6a59bcd28cc37f4a8
Autor:
Eric A. L. Jones, Jeffrey C. Dunne, Charles W. Cahoon, Katherine M. Jennings, Ramon G. Leon, Wesley J. Everman
Publikováno v:
Plant-Environment Interactions, Vol 5, Iss 3, Pp n/a-n/a (2024)
Abstract A putative glufosinate‐resistant Amaranthus palmeri population was reported in 2015 in Anson County, North Carolina. The results from dose–response assays conducted in the field suggested plants were surviving lethal rates of glufosinate
Externí odkaz:
https://doaj.org/article/97acedc0e32e40f1aa78685d66356304
Autor:
Panpan Long, Le Wang, Hangjing Tan, Ruping Quan, Zihao Hu, Minghua Zeng, Ziheng Deng, Hualin Huang, Jonathan Greenbaum, Hongwen Deng, Hongmei Xiao
Publikováno v:
Journal of Ovarian Research, Vol 17, Iss 1, Pp 1-10 (2024)
Abstract Background The etiology of premature ovarian insufficiency, that is, the loss of ovarian activity before 40 years of age, is complex. Studies suggest that genetic factors are involved in 20–25% of cases. The aim of this study was to explor
Externí odkaz:
https://doaj.org/article/3a4bbb22af424cc486f0ba158146c9ea
Autor:
Maurício de Oliveira Celeri, Weverton Gomes da Costa, Ana Carolina Campana Nascimento, Camila Ferreira Azevedo, Cosme Damião Cruz, Vitor Seiti Sagae, Moysés Nascimento
Publikováno v:
Agronomy, Vol 14, Iss 10, p 2234 (2024)
The present work used Multivariate Adaptive Regression Splines (MARS) for genomic prediction and to study the non-additive fraction present in a trait. To this end, 12 scenarios for an F2 population were simulated by combining three levels of broad-s
Externí odkaz:
https://doaj.org/article/1d1fe47ad9b3474e8cd572869331d8b8
Autor:
Birgit Weiss, Tim Ott, Philipp Vick, Julian C. Lui, Ralph Roeth, Sebastian Vogel, Stephan Waldmüller, Sandra Hoffmann, Jeffrey Baron, Jan M. Wit, Gudrun A. Rappold
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Very tall people attract much attention and represent a clinically and genetically heterogenous group of individuals. Identifying the genetic etiology can provide important insights into the molecular mechanisms regulating linear growth. We studied a
Externí odkaz:
https://doaj.org/article/b5a12474807949e08787b07642f023bf
Autor:
Veria Vacchiano, Flavia Palombo, Danara Ormanbekova, Claudio Fiorini, Alessia Fiorentino, Leonardo Caporali, Andrea Mastrangelo, Maria Lucia Valentino, Sabina Capellari, Rocco Liguori, Valerio Carelli
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with a complex genetic architecture, showing monogenic, oligogenic, and polygenic inheritance. In this study, we describe the case of a 71 years-old man diagnosed with ALS with atypic
Externí odkaz:
https://doaj.org/article/92dfbb44ead243a4850c6d5d82dcade9
Publikováno v:
Platelets, Vol 34, Iss 1 (2023)
Although thrombocytopenia in neonatal intensive care patients is rarely due to inherited disorders, the number of genetic variants implicated in platelet defects has grown dramatically with increasing genome-wide sequencing. Here we describe a case o
Externí odkaz:
https://doaj.org/article/06cf91f3484d47a28c35620d6f40d21e
Autor:
Nassim Versbraegen, Barbara Gravel, Charlotte Nachtegael, Alexandre Renaux, Emma Verkinderen, Ann Nowé, Tom Lenaerts, Sofia Papadimitriou
Publikováno v:
BMC Bioinformatics, Vol 24, Iss 1, Pp 1-19 (2023)
Abstract Background The prediction of potentially pathogenic variant combinations in patients remains a key task in the field of medical genetics for the understanding and detection of oligogenic/multilocus diseases. Models tailored towards such case
Externí odkaz:
https://doaj.org/article/7976771cac774d558b85ecec69028ce7
Autor:
Valerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, Annick Massart, Julie Soblet, Camille Perazzolo, Nicolas Deconinck, Elise Brischoux-Boucher, Anne De Leener, Nicole Revencu, Sandra Janssens, Stèphanie Moorgat, Bettina Blaumeiser, Kristiina Avela, Renaud Touraine, Imad Abou Jaoude, Kathelijn Keymolen, Pascale Saugier-Veber, Tom Lenaerts, Marc Abramowicz, Isabelle Pirson
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-14 (2023)
Abstract Background Congenital hydrocephalus is characterized by ventriculomegaly, defined as a dilatation of cerebral ventricles, and thought to be due to impaired cerebrospinal fluid (CSF) homeostasis. Primary congenital hydrocephalus is a subset o
Externí odkaz:
https://doaj.org/article/44a6fec88d5c445daba53c4728eddc7a