Methods 113 caucasian patients carrying MEFV mutations (46 with mutations in two alleles, 67 heterozygous) and 205 genetically negative patients for MEFV, TNFSF1A and MEFV (70% with a PFAPA phenotype) were analyzed. The following groups were considerd: patients with: i) 2 high penetrance mutations (M694V, M694I, M680I), ii) 1 high, 1 low penetrance mutation, iii) 2 low penetrance mutations, iv)...

Edwards (i960, i963) has recently pointed out that conditions which have been attributed to the effects of a single major gene of diminished penetrance are also capable of being explained as the result of polygenic factors, if the condition in question is not very infrequent. It is only necessary to suppose that polygenic factors bring about a predisposition which expresses itself in a recogniz...

A deeper understanding of both germline and somatic genomic landscapes across a broad population is critical to ensuring optimal performance early cancer detection assays for all patients. Here, we investigated the mutational landscape in patients with colorectal (CRC). total 2,303 de-identified stage I-IV CRC who had commercial, personalized, tumor-informed ctDNA testing (SignateraTM) ordered ...

At chromosome 11p15.5, the imprinting centre 1 (IC1) controls the parent of origin-specific expression of the IGF2 and H19 genes. The 5 kb IC1 region contains multiple target sites (CTS) for the zinc-finger protein CTCF, whose binding on the maternal chromosome prevents the activation of IGF2 and allows that of H19 by common enhancers. CTCF binding helps maintaining the maternal IC1 methylation...

Primary human hepatocytes are commonly used to evaluate liver drug metabolism and toxicity. Pluripotent stem cell derived hepatocytes (SCDHs) have the potential to overcome access and function-related limitations associated with primary hepatocytes. SCDHs may also provide an improved system for evaluating genotypephenotype relationships, e.g. cytochrome P450 (CYP) gene polymorphisms and their i...

Maize pericarp color1 (p1) gene, which regulates phlobaphene biosynthesis in kernel pericarp and cob glumes, offers an excellent genetic system to study tissue-specific gene regulation. A multicopy p1 allele, P1-wr (white pericarp/red cob) is epigenetically regulated. Hypomethylation of P1-wr in the presence of Unstable factor for orange1 (Ufo1), leads to ectopic pigmentation of pericarp and ot...

Aim . To carry out a comparative analysis of the main directions genetic studies complex (chronic) human neuropsychiatric diseases and to determine prospects for their genomic studies. Discussion Complex account more than 90% total pathology are cause premature death disability. One most urgent severe categories diseases, both patients themselves society, endogenous mental illnesses, in particu...

background: germ-line mutations of brca1 and brca2 genes are responsible for approximately 25-30% of dominantly inherited familial breast cancers; still a big part of genetic component is unknown. the aim of this study was to investigate genetic causes of familial breast cancer in a pedigree with recessive pattern of inheritance. methods: we applied exome sequencing as a useful approach in hete...

Abstract Pediatric low-grade glioma incidence has been rising in the U.S. over last 20 years, concurrent with a rate of obesity both adult and pediatric populations. Recently, children obese mothers have demonstrated to increased rates several tumors, including brain tumors. Importantly, is driven large part by diet, given abundance accessibility high-fat, high-sugar food choices. High-fat diet...

The genetic and clinical features of 46 patients in nine families with "pure" hereditary spastic paraplegia are described. Inheritance was autosomal dominant in seven families and autosomal recessive in two. In dominant kinships, five families corresponded to type I with onset below 35 years, and two to type II with onset over 35 years. In early onset dominant families, in spite of apparent com...