Results 31 to 40 of about 14,255 (146)

Exploring the Contribution to ADHD of Genes Involved in Mendelian Disorders Presenting with Hyperactivity and/or Inattention

Genes, 2021
Attention-deficit hyperactivity disorder (ADHD) is a complex neurodevelopmental disorder characterized by hyperactivity, impulsivity, and/or inattention, which are symptoms also observed in many rare genetic disorders.
N. Fernàndez-Castillo, J. Cabana-Domínguez, D. Kappel, B. Torrico, H. Weber, K. Lesch, O. Lao, A. Reif, B. Cormand   +8 more
semanticscholar   +1 more source

Disease-Phenotype Deconvolution in Genetic Eye Diseases Using Online Mendelian Inheritance in Man.

Investigative Ophthalmology and Visual Science, 2015
PURPOSE Capturing organ-specific phenomes in genetic diseases is an uphill task for the eye as it comprises tissue types derived from all three germinal layers.
P. Pandey, Moulinath Acharya
semanticscholar   +1 more source

OMIA (Online Mendelian Inheritance in Animals): an enhanced platform and integration into the Entrez search interface at NCBI

Nucleic Acids Res., 2005
Online Mendelian Inheritance in Animals (OMIA) is a comprehensive, annotated catalogue of inherited disorders and other familial traits in animals other than humans and mice.
Johann Lenffer, F. Nicholas, K. Castle, Arjun A. Rao, Stefan Gregory, M. Poidinger, M. Mailman, S. Ranganathan   +7 more
semanticscholar   +1 more source

Yunweiling alleviates functional constipation: integrating network pharmacology and experimental study

Animal Models and Experimental Medicine, EarlyView.
In a study combining network pharmacological analysis and experimental verification, yunweiling has been shown improve functional constipation by inhibiting the PI3K‐Akt‐p53 signaling pathway and reducing the expression of TP53. Abstract Background This study investigated the impacts and mechanisms of yunweiling in the management of Functional ...
Peng Zhang, Wei Li, Weiwen Zheng, Jinwen Liu, Nuonan She, Xia Chen, Weibo Wen   +6 more
wiley   +1 more source

Online Mendelian Inheritance in Animals (OMIA): a comparative knowledgebase of genetic disorders and other familial traits in non-laboratory animals

Nucleic Acids Res., 2003
Online Mendelian Inheritance in Animals (OMIA) provides up-to-date information on inherited disorders and other familial traits in non-laboratory animals. It is freely available online at http://www.angis.org.au/omia.
F. Nicholas
semanticscholar   +1 more source

Discovering new hub genes of dilated cardiomyopathy

ESC Heart Failure, EarlyView.
Abstract Aims Dilated cardiomyopathy (DCM) has a poor prognosis and exhibits a complex and diverse aetiology and genetic profile. The genes responsible for the pathogenesis of DCM have not been fully identified. The present study aimed to explore new hub genes of DCM by mining the human DCM databases and further by experimental validation.
Jun‐Yan Zhu, Yu Han, Jing‐Yu Yang, De‐Ping Wang, Li‐Juan Gao, Teng Sun, Yan‐Lin Feng, Zhong‐Mei He, Bin Zhou, Ji‐Min Cao   +9 more
wiley   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

PhenoMiner: from text to a database of phenotypes associated with OMIM diseases

Database J. Biol. Databases Curation, 2015
Analysis of scientific and clinical phenotypes reported in the experimental literature has been curated manually to build high-quality databases such as the Online Mendelian Inheritance in Man (OMIM).
Nigel Collier, T. Groza, D. Smedley, Peter N. Robinson, A. Oellrich, Dietrich Rebholz-Schuhmann   +5 more
semanticscholar   +1 more source

How exome sequencing improves the diagnostics and management of men with non‐syndromic infertility

Andrology, EarlyView.
Abstract Male infertility affects approximately 17% of all men and represents a complex disorder in which not only semen parameters such as sperm motility, morphology, and number of sperm are highly variable, but also testicular phenotypes range from normal spermatogenesis to complete absence of germ cells.
Birgit Stallmeyer, Ann‐Kristin Dicke, Frank Tüttelmann   +2 more
wiley   +1 more source

Innovative all‐in‐one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10‐month experience

Andrology, EarlyView.
Abstract Background Current guidelines indicate that patients with extreme oligozoospermia or azoospermia should be tested for chromosomal imbalances, azoospermia factor (AZF) deletions and/or CFTR variants. For other sperm abnormalities, no genetic diagnostics are recommended.
Manon S. Oud, Nicole de Leeuw, Dominique F. C. M. Smeets, Liliana Ramos, Godfried W. van der Heijden, Raoul G. J. Timmermans, Maartje van de Vorst, Tom Hofste, Marlies J. E. Kempers, Marijn F. Stokman, Kathleen W. M. D'Hauwers, Brigitte H. W. Faas, Dineke Westra   +12 more
wiley   +1 more source