Tipping the Scale Toward Gastric Disease: A Host-Pathogen Genomic Mismatch? [0.03%]
宿主与病原体基因组不匹配引发胃部疾病？
Gloria Tavera,Douglas R Morgan,Scott M Williams
Gloria Tavera
Purpose of review: Chronic infection with Helicobacter pylori infection is necessary but not sufficient to initiate development of intestinal-type gastric adenocarcinoma. It is not clear what additional factors tip the sc...
Molecular Mechanisms of Transcription Factor 4 in Pitt Hopkins Syndrome [0.03%]
波伊特-霍普金斯综合征中转录因子4的分子机制
Matthew D Rannals,Brady J Maher
Matthew D Rannals
Purpose of review: Pitt Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder that results from mutations of the clinically pleiotropic Transcription Factor 4 (TCF4) gene. Mutations in the genomic locus of TCF4 on...
V Saroja Voruganti
V Saroja Voruganti
Purpose: Cardiovascular disease (CVD) is the leading cause of death in the United States and globally. There is significant evidence implicating genetic and dietary factors in the development and progression of CVD and it...
M Ilyas Kamboh
M Ilyas Kamboh
Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies [0.03%]
线粒体疾病：临床诊断、管理、治疗开发和预防策略的新进展
Colleen C Muraresku,Elizabeth M McCormick,Marni J Falk
Colleen C Muraresku
Purpose of review: Primary mitochondrial disease encompasses an impressive range of inherited energy deficiency disorders having highly variable molecular etiologies as well as clinical onset, severity, progression, and r...
Elizabeth M McCormick,Colleen C Muraresku,Marni J Falk
Elizabeth M McCormick
Purpose of review: The groundwork for mitochondrial medicine was laid 30 years ago with identification of the first disease-causing mitochondrial DNA (mtDNA) mutations in 1988. Three decades later, mutations in nearly 300...
Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders [0.03%]
遗传学新发现及其对自闭症患者和家庭咨询的影响
Jun Shen,Sharyn Lincoln,David T Miller
Jun Shen
The prevalence of autism spectrum disorders (ASD) continues to increase. Genetic factors play an important role in the etiology of ASD, although specific genetic causes are identified in only a minority of cases. Recent advances have accele...
Using High-Throughput Animal or Cell-Based Models to Functionally Characterize GWAS Signals [0.03%]
利用高通量动物或细胞模型功能表征GWAS信号
Pierre Dourlen,Julien Chapuis,Jean-Charles Lambert
Pierre Dourlen
Purpose of review: The advent of genome-wide association studies (GWASs) constituted a breakthrough in our understanding of the genetic architecture of multifactorial diseases. For Alzheimer's disease (AD), more than 20 r...
Nimansha Jain,Alice S Chen-Plotkin
Nimansha Jain
Purpose of review: To review the evidence for genetic modifier effects in the neurodegenerative diseases Huntington's Disease (HD), Frontotemporal Lobar Degeneration (FTLD), Alzheimer's Disease (AD), and Parkinson's Disea...
Catherine M Stein,Lindsay Sausville,Christian Wejse et al.
Catherine M Stein et al.
Purpose of review: Tuberculosis (TB), caused by Mycobacterium tuberculosis (MTB), remains a major public health threat globally. Several lines of evidence support a role for host genetic factors in resistance/susceptibili...