Results 31 to 40 of about 17,949 (246)

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Genetic Risk and High Burden of Depression and Suicide in the Maya‐Mestizo Population of Yucatán, México

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Major depression and suicide are critical public health concerns, particularly in underrepresented populations with unique genetic and sociocultural contexts. The Maya‐mestizo population presents the highest suicide rates in the country but remains understudied in psychiatric genetics. This study evaluated the association between three genetic
Marta Menjivar, Erandi Bravo, Margarita Rivera‐Balancan, Barbara Itzel Pena Espinoza   +3 more
wiley   +1 more source

ApoE‐ and Cfh‐deficient mice exhibit structural and molecular features of human early–intermediate retinal degeneration

Animal Models and Experimental Medicine, EarlyView.
Age‐related macular degeneration (AMD) involves lipid dysregulation and complement overactivation. Here, we characterize a double‐knockout ApoE−/−/Cfh−/− mouse as a model of early–intermediate retinal degeneration. These mice exhibit retinal pigment epithelium thinning, Bruch's membrane thickening, lipid accumulation, enhanced C5b‐9 deposition ...
Sergio Recalde, Maite Moreno Orduña, Jaione Bezunartea, Idoia Belza, Ainara Chas, Laura Fernández‐Sánchez, Nicolás Cuenca Navarro, Alfredo García‐Layana, Patricia Fernández‐Robredo, María Hernández   +9 more
wiley   +1 more source

Attention Deficit Hyperactivity Disorder and Genetics [PDF]

Psikiyatride Güncel Yaklaşımlar, 2018
Attention Deficit Hyperactivity Disorder (ADHD) is a neurodevelopmental disorder of which three basic symptoms are lack of attention, over-activity that is improper to the age and impulsivity, all of which appear in childhood.
Fatih Hilmi Cetin, Yasemen Isik
doaj   +1 more source

Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report

Frontiers in Genetics, 2021
Juvenile-onset diabetes may occur in the context of a rare syndromic presentation, suggesting a monogenic etiology rather than a common multifactorial diabetes.
Hamza Dallali, Nadia Kheriji, Wafa Kammoun, Mehdi Mrad, Manel Soltani, Hajer Trabelsi, Walid Hamdi, Afef Bahlous, Melika Ben Ahmed, Faten Mahjoub, Henda Jamoussi, Henda Jamoussi, Sonia Abdelhak, Sonia Abdelhak, Rym Kefi, Rym Kefi   +15 more
doaj   +1 more source

Rethinking brachycephaly: Anatomical implications and health considerations in lagomorphs

The Anatomical Record, EarlyView.
Abstract Brachycephaly in domestic rabbits is increasingly perceived by welfare organizations as associated with significant health complications, particularly oral pathologies. Despite this perception, comparative anatomical research into rabbit brachycephaly is limited compared to that of dogs and cats, compelling an in‐depth examination of its ...
Helaina Cressy, Alice Nishigaki, Matthew C. Gage, Renato L. Previdelli   +3 more
wiley   +1 more source

Patterns of Hypodontia among Third Molars in Contemporary American Adolescents

Dental Anthropology, 2009
Third molars (M3s) are congenitally absent (hypodontic) more frequently than any other tooth type. Causes of this enhanced variability are poorly understood, but the potential range of absence—from none through four M3s per person—provides the ...
Edward F. Harris
doaj   +1 more source

Human evolution and the obstetrical dilemma: The pelvic floor hypothesis

The Anatomical Record, EarlyView.
Abstract Human childbirth is mechanically difficult because a large‐headed, broad‐shouldered fetus must pass through a comparatively narrow, twisted bony birth canal. Traditional explanations of this “obstetrical dilemma” emphasize the role of bipedal locomotion in inhibiting the evolution of a wider, more spacious pelvis.
Barbara Fischer, Ekaterina Stansfield
wiley   +1 more source

Epilepsy With Auditory Features: From Etiology to Treatment

Frontiers in Neurology, 2022
Epilepsy with auditory features (EAF) is a focal epilepsy belonging to the focal epileptic syndromes with onset at variable age according to the new ILAE Classification. It is characterized by seizures with auditory aura or receptive aphasia suggesting a
Alessandro Furia, Laura Licchetta, Lorenzo Muccioli, Lorenzo Ferri, Lorenzo Ferri, Barbara Mostacci, Stefania Mazzoni, Veronica Menghi, Raffaella Minardi, Paolo Tinuper, Paolo Tinuper, Francesca Bisulli, Francesca Bisulli   +12 more
doaj   +1 more source

ANK1 and EPB41 Variants and The Risk of Glucocorticoid‐Induced Osteonecrosis

Arthritis &Rheumatology, EarlyView.
Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen, Xianmin Zhu, Zhongzhong Chen, Wei Chen, Hussam Alkaissi, Zeng Zhang, Yun Gao, Junhui Yin, Xiangtian Yu, Qiong Fu, Youshui Gao, Zhenzhong Zhu, Qianying Cai, Pengwei Zhang, Weibin Chen, Xin Zhao, Xiaojin Wu, Karel Pacak, Dongxu Jin, Chunde Bao, Zhengping Zhuang, Changqing Zhang   +21 more
wiley   +1 more source