Results 21 to 30 of about 17,949 (246)

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

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

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

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

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

Schizophrenia and Mitochondrial Dysfunction [PDF]

Psikiyatride Güncel Yaklaşımlar, 2014
Genetic factors play an important role in the development of schizophrenia that the etiology is clearly not known. However, specific inheritance mechanism of this disorder is still unclear.
Suleyman Akarsu
doaj   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Atypical Presentation of Goldenhar Syndrome

Bengal Journal of Otolaryngology and Head Neck Surgery, 2021
Introduction In 1952 Goldenhar described a case with triad of pre auricular tags, mandibular hypoplasia and ocular (epibulbar) dermoid and described the case as Goldenhar Syndrome. Case Report A case of Goldenhar Syndrome without ocular involvement
Shubhrakanti Sen, Debmalya Maity, Arnab Koley   +2 more
doaj  

Familial Malignant Melanoma - Overview

Hereditary Cancer in Clinical Practice, 2004
Approximately 3-15% of all malignant melanomas (MM) are familial cases. MM is a highly heterogeneous tumour type from a genetic perspective. Pedigrees with disease confined to a single generation of siblings or MM occurring among second- or third-degree ...
Dębniak Tadeusz
doaj   +1 more source