Results 111 to 120 of about 1,225,648 (255)

Clinical manifestation of autosomal dominant hyper-IgE syndrome with associated autism

Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare inborn error of immunity that affects multiple organs and presents a wide array of clinical features.
Adrianna Muciek, Magdalena Rutkowska-Zapała, Anna Szaflarska, Szaflarska, Anna, Muciek, Adrianna, Rutkowska-Zapała, Magdalena   +5 more
core   +1 more source

Humans and platyrrhines share a pattern of articular variance

The Anatomical Record, EarlyView.
Abstract Previous work has identified a pattern of articular shape variation in modern human limb joints, in which convex joint surfaces exhibit constrained variance relative to their more variable concave conarticulars. This pattern is notable given that joint morphogenesis is influenced by local biomechanical environments, which vary substantially ...
Haley Horbaly, Liam Zachary
wiley   +1 more source

Microphthalmia-congenital anterior polar cataract. An autosomal dominant syndrome.

, 1985
A condition is described which is characterized by microphthalmia and congenital anterior polar cataract, transmitted in an autosomal dominant ...
Tenconi R., CLEMENTI, MAURIZIO, Rossetti A, Pesenti P   +3 more
core   +1 more source

Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak

Animal Research and One Health, EarlyView.
Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan, Jialei Chen, Chuzhao Lei, Fengwei Zhang, Shunzhong He, Weiru Song, Hongyan Ma, Shuling Li, Guomei Li, Laba Yongcuo, Jianlin Han, Johannes A. Lenstra, Qiang Zhang, Rende Song, Basang Wangdui, Ningbo Chen   +15 more
wiley   +1 more source

[Hypophyseal incidentaloma in a patient with autosomal dominant polycystic kidney disease]

, 2002
The prevalence of incidentally discovered lesions within the pituitary (pituitary incidentalomas) is about 10%. The most common form of sellar mass are clinically nonfunctioning adenomas (less than 10 mm); functioning adenomas, however, are rare ...
Fajfr, R, Diem, P, Müller, B
core  

Autosomal dominant adult neuronal ceroid lipofuscinosis [PDF]

, 2011
this thesis investigates a family with autosomal dominant neuronal ceroid lipofuscinosis, with chapters on clinical neurology, neuropathology, neurogenetics, neurophysiology, auditory and visual aspects.UBL - phd migration ...
Nijssen, P.C.G.
core  

Epigenetic editing for autosomal dominant neurological disorders

Frontiers in Genome Editing
Epigenetics refers to the molecules and mechanisms that modify gene expression states without changing the nucleotide context. These modifications are what encode the cell state during differentiation or epigenetic memory in mitosis.
Jennifer J. Waldo, Julian A. N. M. Halmai, Kyle D. Fink   +2 more
doaj   +1 more source

Heat Stress in Quail: Impacts on Health and Productivity, and Mitigation Strategies

Animal Research and One Health, EarlyView.
Heat stress disrupts physiological homeostasis in quail, inducing oxidative stress, immune dysregulation, and metabolic imbalance, which impair growth, reproduction, product quality, and welfare. Integrating nutritional, environmental, and genetic–epigenetic strategies enhances thermotolerance, sustains productivity, and supports climate‐smart quail ...
T. A. Eletu, I. A. Anjola, L. O. Fasasi, D. P. Fadipe, A. T. Afuye, F. O. Fasanya, O. E. Oke   +6 more
wiley   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source