The effects of alleles in many genes are believed to contribute to common complex diseases such as hypertension. Whether risk alleles comprise a small number of common variants or many rare independent mutations at trait loci is largely unknown. We screened members of the Framingham Heart Study (FHS) for variation in three genes—SLC12A3 (NCCT), SLC12A1 (NKCC2) and KCNJ1 (ROMK)—causing rare rece...

Regorafenib has been shown to improve survival in later lines of treatment metastatic colorectal cancer patients, irrespective RAS status. This study aimed retrospectively assess the efficacy regorafenib relation extended evaluation a multi-center real-world setting. Nine Institution from Central-Southern Italy were involved study. Main inclusion criteria were: availability evaluation, data con...

Apert syndrome (AS) is a rare type of congenital craniofacial dysmorphic and severe syndactyly the hands feet. Fibroblast growth factor receptor (FGFR) gene mutations are suspect to be involved in this anomaly. The distinct features craniosynostosis-a condition premature closure skull's sutures-, midface hypoplasia-an incomplete development middle face-, syndactyly-webbed fingers or toes-. anor...

Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by the accumulation of an amorphous hyaline material in various regions body, including skin, mucous membranes, brain, internal organs. LP caused mutations gene encoding extracellular matrix protein 1 (ECM1) found on chromosome 1q21. Although this disease rare, it more reported areas where consanguineous marriage...

BACKGROUND The half of hyperalphalipoproteinemia (HALP) in Japan is caused by CETP gene mutations. Other than two prevalent mutations (D442G and Intron 14 splicing donor site +1G>A), some rare CETP mutations are found in Japanese HALP subjects. METHODS CETP gene analysis of genomic DNA from subjects was performed by restriction fragment length polymorphism (RFLP) and sequencing analysis. Muta...

dowling-degos disease is a rare sporadic or autosomal dominant pigmentary entity, in which clusters of papules and reticulate macules slowly develop with predominance in flexural regions. this entity is due to mutations in the keratin 5 gene, and is related with other cutaneous disorders. we report the sporadic form of dowling-degos disease in an elderly man with multiple seborrheickeratosis in...

kindler syndrome (ks) is a rare, autosomal recessive genodermatosis characterized by skin blistering and photosensitivity in infancy, progressive poikiloderma, and diffuse cutaneous atrophy. it affects the skin, mucous membranes, and oral cavity and is caused by mutations in the kind1 gene on 20p12.3. the first case of ks associated with periodontitis was reported in 1996, and have been infrequ...

apert syndrome is a congenital craniosynostosis syndrome comprising of bilateral coronal synostosis , symmetric syndactyly of hands and feet and midface hypoplasia. we present an atypical phenotype of this syndrome with right sided unilateral coronal synostosis. however, type i apert hand and other clinical and radiological features suggestthe diagnosis. genetic analysis revealed an absence of ...

PIK3CA-Related Overgrowth Spectrum (PROS) refers to rare syndromes, which are characterized by malformations and excessive tissue growth caused somatic mutations in the PIK3CA gene occurring during embryogenesis. This article discusses pathogenesis, clinical picture, diagnosis treatment of these syndromes. Some illustrations used this copied from other resources, rights authors respected not vi...