Results 281 to 290 of about 2,250,508 (337)

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Effects of Arboviral Infections on Transposable Element Transcript Levels in Aedes aegypti. [PDF]

Genome Biol Evol
Garambois C, Boulesteix M, Fablet M.
europepmc   +1 more source

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas, Susan Crawford, Tanya Bedard   +2 more
wiley   +1 more source

Small non-coding RNAs have predicted roles in reproductive biology and transposable element regulation in the parasitic worm Strongyloides venezuelensis

Lastik D, Kounosu A, Dayi M, Yoshida A, Fujihira A, Reynolds K, Hunt VL, Kikuchi T.   +7 more
europepmc   +1 more source

Actively Expressed Intergenic Genes Generated by Transposable Element Insertions in Gossypium hirsutum Cotton. [PDF]

Plants (Basel)
Guan Y, Zhou M, Zhang C, Han Z, Zhang Y, Wu Z, Zhu Y.   +6 more
europepmc   +1 more source

A Transcriptome‐Wide Mendelian Randomization Study in Isolated Human Immune Cells Highlights Risk Genes Involved in Viral Infections and Potential Drug Repurposing Opportunities for Schizophrenia

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia is a neurodevelopmental psychiatric disorder characterized by symptoms of psychosis, thought disorder, and flattened affect. Immune mechanisms are associated with schizophrenia, though the precise nature of this relationship (causal, correlated, consequential) and the mechanisms involved are not fully understood.
David Stacey, Liam Gaziano, Preethi Eldi, Catherine Toben, Beben Benyamin, S. Hong Lee, Elina Hyppönen   +6 more
wiley   +1 more source

The gap-free assembly of pepper genome reveals transposable-element-driven expansion and rapid evolution of pericentromeres. [PDF]

Plant Commun
Zhang K, Wang X, Chen S, Liu Y, Zhang L, Yang X, Yu H, Cao Y, Zhang L, Cai C, Ruan J, Wang L, Cheng F.   +12 more
europepmc   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

An enhancer-transposable element from purple leaf tea varieties underlies the transition from evergreen to purple leaf color. [PDF]

Plant Commun
Xie H, Zhu J, Wang H, Zhang L, Tong X, Huang F, Zhang C, Mi X, Qiao D, Li F, Yao Y, Gu H, Zhou Q, Liu S, Li S, Xia E, Xie DY, Wei C.   +17 more
europepmc   +1 more source

Raising post‐secondary education participation of young people transitioning from care: The effects of extended legislative support

Australian Journal of Social Issues, EarlyView.
Abstract Out‐of‐home care is associated with a range of negative social outcomes for the young people who experience it. The most promising path to improved life chances for care‐experienced young people is arguably through education, especially post‐secondary education.
Naomi Tootell, Andrew Harvey
wiley   +1 more source