Results 21 to 30 of about 257,096 (267)

Genital Vulvar Lichen Sclerosus in Monozygotic Twin Women: A Case Report and Review of the Literature

Case Reports in Dermatology, 2013
Lichen sclerosus et atrophicus is a skin disease of multifactorial etiology which appears in patients with genetic or hormonal predisposition and autoimmune disease.
Georgeta Doulaveri, Kalliopi Armira, Anargyros Kouris, Dimitrios Karypidis, Irene Potouridou   +4 more
doaj   +1 more source

Advance Genome Disorder Prediction Model Empowered With Deep Learning

IEEE Access, 2022
A major and essential issue in biomedical research is to predict genome disorder. Genome disorders cause multivariate diseases like cancer, dementia, diabetes, cystic fibrosis, leigh syndrome, etc.
Atta-Ur-Rahman, Muhammad Umar Nasir, Mohammed Gollapalli, Muhammad Zubair, Muhammad Aamer Saleem, Shahid Mehmood, Muhammad Adnan Khan, Amir Mosavi   +7 more
doaj   +1 more source

A substitution mutation in LRP8 gene is significantly associated with susceptibility to familial myocardial infarction [PDF]

ARYA Atherosclerosis, 2020
BACKGROUND: Myocardial infarction (MI) is a multifactorial disease caused by the suspension of blood circulation in a part of the myocardium. Understanding the genetic basis of MI can provide insight regarding the pathogenesis of the disease.
Mohammad Javad Ghorbani, Nematollah Razmi, Seyed Mohammad Bagher Tabei, Mohammad Javad Zibaeenezhad, Hamid Reza Goodarzi   +4 more
doaj   +1 more source

Cutis Marmorata Telangiectatica Congenita in a Preterm Female Newborn: Case Report and Review of the Literature

La Pediatria Medica e Chirurgica, 2014
Cutis Marmorata Telangiectatica Congenita (CMTC) is a rare, sporadic condition usually present at birth characterized by localized or generalized persistent cutis marmorata, telangiectasia and phlebectasia.
C. De Maio, G. Pomero, A. Delogu, E. Briatore, M. Bertero, P. Gancia   +5 more
doaj   +1 more source

Genetic variants in taste genes play a role in oral microbial composition and severe early childhood caries

iScience, 2022
Summary: Severe early childhood caries (S-ECC) is a multifactorial disease with strong evidence of genetic inheritance. Previous studies suggest that variants in taste genes are associated with dental caries due to the role of taste proteins in mediating
Vivianne Cruz de Jesus, Betty-Anne Mittermuller, Pingzhao Hu, Robert J. Schroth, Prashen Chelikani   +4 more
doaj   +1 more source

Significance of α-Myosin Heavy Chain (MYH6) Variants in Hypoplastic Left Heart Syndrome and Related Cardiovascular Diseases

Journal of Cardiovascular Development and Disease, 2022
Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease (CHD) with complex genetic inheritance. HLHS segregates with other left ventricular outflow tract (LVOT) malformations in families, and can present as either an isolated ...
Melissa Anfinson, Robert H. Fitts, John W. Lough, Jeanne M. James, Pippa M. Simpson, Stephanie S. Handler, Michael E. Mitchell, Aoy Tomita-Mitchell   +7 more
doaj   +1 more source

Asociación y efectos de interacción en los genes AGT, AGTR1, ACE, ADRB2, DRD1, ADD1, ADD2, ATP2B1, TBXA2R y PTGS2 sobre la hipertensión en la población antioqueña

Biomédica: revista del Instituto Nacional de Salud, 2013
Introducción. La hipertensión arterial es una enfermedad multifactorial influenciada por componentes genéticos y ambientales, cuya prevalencia varía entre grupos étnicos.
Diana María Valencia, Carlos Andrés Naranjo, María Victoria Parra, María Antonieta Caro, Ana Victoria Valencia, Carlos José Jaramillo, Gabriel Bedoya   +6 more
doaj   +1 more source

Paternal Sperm Gnas‐ICR Epigenetic Programming Contributes to PPP‐Like Phenotypes in Female Offspring

Advanced Science, EarlyView.
A paternal glucocorticoid–sperm Gnas‐ICR axis is linked to ovarian endocrine programming in female offspring. Paternal preconception caffeine exposure elevates corticosterone, promotes sperm Gnas‐ICR hypermethylation, and is associated with ovarian Gnas upregulation, cAMP/PKA/CREB–StAR activation, enhanced estradiol synthesis, and PPP‐like phenotypes ...
Jing Huang, Lu Chen, Tiancheng Wu, Yating Li, Hui Wang   +4 more
wiley   +1 more source

Pedigree analysis of idiopathic epilepsy in children of South Kerala

National Journal of Clinical Anatomy, 2012
Background and aims: Epilepsy is a major health problem in infancy and childhood. Genetic factors are implicated in the etiology of epilepsy. A familial susceptibility to seizures have been recognized but the exact mode of inheritance remains unclear ...
A Amar Jayanthi
doaj   +1 more source

Large‐scale Whole‐Exome Sequencing Defines the Protein‐Coding Architecture of Retinal Structure, Visual Function, and Major Blinding Diseases

Advanced Science, EarlyView.
Large‐scale whole‐exome sequencing in 356,982 UK Biobank participants defines the protein‐coding architecture of retinal structure, visual function, and major blinding diseases. Pleiotropic genes, including CFI, C3, and RIOX1, bridge multiple retinal phenotypes, while experimental validation of FYB2 implicates RPE barrier dysfunction, providing ...
Jianqing Li, Yijun Ge, Jingxiao Du, Liu Yang, Bangsheng Wu, Chenyue Hang, Mengxi Shen, Yimin Mao, Ting Zhang, Qiyu Bo, Tianyuan Zhao, Yutian Jiao, Yazhi Wang, Shunxiang Gao, Jieqiong Chen, Junran Sun, Tong Li, Huixun Jia, Yang Dou, Wei Cheng, Xiaoling Wan, Jintai Yu, Xiaodong Sun, Bai Lu   +23 more
wiley   +1 more source