Results 71 to 80 of about 48,688 (297)

Pleiotropy of Presenilins [PDF]

Hereditary Genetics, 2013
Pleiotropy genes affect multiple and apparently unrelated phenotypes. Here we describe pleiotropy gene presenilins, mutations in which have been detected in three genetically heterogeneous diseases: early-onset familial Alzheimer’s disease, familial or sporadic dilated cardiomyopathy, and familial hidradenitis suppurativa.
openaire   +1 more source

Pleiotropy accelerates tooth phenotypic and genomic evolution - An in silico study under the lens of development

Pleiotropy, which can occur when a gene affects multiple traits, is a central property of living organisms, influencing their response to mutations and their evolutionary trajectories.
Beslon, Guillaume, Hagolani, Pascal Felix, Sémon, Marie, Pantalacci, Sophie   +3 more
core   +1 more source

Evaluating the potential role of pleiotropy in Mendelian randomization studies [PDF]

, 2018
Pleiotropy, the phenomenon of a single genetic variant influencing multiple traits, is likely widespread in the human genome. If pleiotropy arises because the single nucleotide polymorphism (SNP) influences one trait, which in turn influences another ...
Bowden, Jack, Davey Smith, George, Gibran Hemani, George Davey Smith, Hemani, Gibran, Jack Bowden   +5 more
core   +1 more source

Trace Elements Genetics: A Potential Role in Treatment‐Resistant Major Psychoses and Related Traits?

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Trace elements are pivotal to key biological processes, with possible effects on psychopathology. We investigated the hypothesis of shared genetic factors between trace elements levels, treatment resistance and related traits. We used genome‐wide summary statistics for trace elements blood concentration, treatment‐resistant depression (TRD ...
Chiara Fabbri, Alessandro Serretti, Marco Menchetti, Benedetta Vai, Francesco Benedetti, Lidia Fortaner‐Uyà, Concetta Crisafulli   +6 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Role of soft tissue and bone interactions in the developmental integration and modularity of the skull in neural crest‐specific gap junction alpha‐1 knockout mice

The Anatomical Record, EarlyView.
Abstract The vertebrate skull is composed of bones derived from neural crest cells and mesoderm. The evolutionary capacity of the skull has been linked, in part, to the emergence of neural crest cells; however, this increased capacity for evolutionary change requires that variation within neural crest‐ and mesoderm‐derived bones remains partly ...
Alyssa C. Moore, Madeline Tourigny, Diana Quinonez, Kevin Barr, Matthew W. Grol, Katherine E. Willmore   +5 more
wiley   +1 more source

Multi-Phenotype Association Decomposition: Unraveling Complex Gene-Phenotype Relationships

Frontiers in Genetics, 2019
Various patterns of multi-phenotype associations (MPAs) exist in the results of Genome Wide Association Studies (GWAS) involving different topologies of single nucleotide polymorphism (SNP)-phenotype associations.
Deborah Weighill, Deborah Weighill, Piet Jones, Piet Jones, Carissa Bleker, Carissa Bleker, Priya Ranjan, Priya Ranjan, Manesh Shah, Nan Zhao, Madhavi Martin, Stephen DiFazio, David Macaya-Sanz, Jeremy Schmutz, Jeremy Schmutz, Avinash Sreedasyam, Timothy Tschaplinski, Gerald Tuskan, Daniel Jacobson, Daniel Jacobson   +19 more
doaj   +1 more source

There is a small, negative relationship between interval-based adjusted pleiotropy and observed pleiotropy in the four population-trait categories.

, 2023
The scatter plots show the relationship between the adjusted and observed pleiotropy values for (a) NAM field, (b) GAP field, (c) GAP mass features, and (d) GAP expression traits.
Emily Yi (14822592), M. Cinta Romay (9467168), Anju Giri (11520266), Edward S. Buckler (8844038), Merritt Khaipho-Burch (11520269), Taylor Ferebee (14019209), Guillaume Ramstein (14349513), Brandon Monier (6336209)   +7 more
core   +1 more source

Toward a Molecular Understanding of Pleiotropy [PDF]

Genetics, 2006
Abstract Pleiotropy refers to the observation of a single gene influencing multiple phenotypic traits. Although pleiotropy is a common phenomenon with broad implications, its molecular basis is unclear. Using functional genomic data of the yeast Saccharomyces cerevisiae, here we show that, compared with genes of low pleiotropy, highly ...
Xionglei, He, Jianzhi, Zhang
openaire   +2 more sources

Genetic and population analyses implicate thyroid‐related regulation of RNF144B in chondrocalcinosis

Arthritis &Rheumatology, Accepted Article.
Objectives Chondrocalcinosis, characterized by calcium crystal deposition within articular cartilage, affects 5–15% of the general population and has recently been identified as an osteoarthritis risk factor. However, Its biological pathways remain unclear.
Yahong Wu, Yanning Xu, Paul C. Okoro, Sirine Saafi, Jard de Vries, Xiaoyi Qi, Edwin H.G. Oei, Sita Bierma‐Zeinstra, Trudy Voortman, David Felson, Joyce BJ van Meurs, Layal Chaker, J. Mark Wilkinson, Michelle S. Yau, Jessica Bertrand, Cindy G. Boer   +15 more
wiley   +1 more source