Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene [0.03%]
贝克威思-威德曼综合征和IMAGe 综合征：同一基因的不同突变导致的两种截然不同的疾病
Donatella Milani,Lidia Pezzani,Silvia Tabano et al.
Donatella Milani et al.
Genomic imprinting is an epigenetically regulated mechanism leading to parental-origin allele-specific expression. Beckwith-Wiedemann syndrome (BWS) is an imprinting disease related to 11p15.5 genetic and epigenetic alterations, among them ...
Mohammed Wajid Chaudhary,Raidah Saleem Al-Baradie
Mohammed Wajid Chaudhary
Ataxia-telangiectasia (A-T) is an autosomal recessive multi-system disorder caused by mutation in the ataxia-telangiectasia mutated gene (ATM). ATM is a large serine/threonine protein kinase, a member of the phosphoinositide 3-kinase-relate...
The genetic basis of Lynch syndrome and its implications for clinical practice and risk management [0.03%]
林奇综合征的遗传基础及其对临床实践和风险管理的影响
Stephanie A Cohen,Anna Leininger
Stephanie A Cohen
Lynch syndrome is the most common cause of hereditary colon cancer, and accounts for as much as 3% of all colon and endometrial cancers. The identification and management of individuals with Lynch syndrome have evolved over the past 20 year...
Disease-modifying genes and monogenic disorders: experience in cystic fibrosis [0.03%]
疾病修饰基因与单基因病：囊性纤维化中的经验
Sabina Gallati
Sabina Gallati
The mechanisms responsible for the determination of phenotypes are still not well understood; however, it has become apparent that modifier genes must play a considerable role in the phenotypic heterogeneity of Mendelian disorders. Signific...
Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma [0.03%]
从母体血浆中鉴定出18三体、13三体和唐氏综合征
Jean Gekas,Sylvie Langlois,Vardit Ravitsky et al.
Jean Gekas et al.
Current prenatal diagnosis for fetal aneuploidies (including trisomy 21 [T21]) generally relies on an initial biochemical serum-based noninvasive prenatal testing (NIPT) after which women who are deemed to be at high risk are offered an inv...
Penny J Ireland,Verity Pacey,Andreas Zankl et al.
Penny J Ireland et al.
Achondroplasia is the most common form of skeletal dysplasia, resulting in disproportionate short stature, and affects over 250,000 people worldwide. Individuals with achondroplasia demonstrate a number of well-recognized anatomical feature...
The genetic basis of ankylosing spondylitis: new insights into disease pathogenesis [0.03%]
强直性脊柱炎的遗传基础——疾病发病机制的新见解
Florence Wl Tsui,Hing Wo Tsui,Ali Akram et al.
Florence Wl Tsui et al.
Ankylosing spondylitis (AS) is a complex disease involving multiple risk factors, both genetic and environmental. AS patients are predominantly young men, and the disease is characterized by inflammation and ankylosis, mainly at the cartila...
Lynne M Bird
Lynne M Bird
"Angelman syndrome" (AS) is a neurodevelopmental disorder whose main features are intellectual disability, lack of speech, seizures, and a characteristic behavioral profile. The behavioral features of AS include a happy demeanor, easily pro...
Influence of oncogenic transcription factors on chromatin conformation and implications in prostate cancer [0.03%]
致癌性转录因子对染色质构象的影响及其在前列腺癌中的意义
Yeqing Angela Yang,Jung Kim,Jindan Yu
Yeqing Angela Yang
In recent years, facilitated by rapid technological advances, we are becoming more adept at probing the molecular processes, which take place in the nucleus, that are crucial for the hierarchical regulation and organization of chromatin arc...
Abdallah Al-Salameh,Régis Cohen,Rachel Desailloud
Abdallah Al-Salameh
Primary aldosteronism is the most common cause of secondary hypertension. The syndrome accounts for 10% of all cases of hypertension and is primarily caused by bilateral adrenal hyperplasia or aldosterone-producing adenoma. Over the last fe...