CONTEXT Primary adrenal failure is a life-threatening condition that can be caused by a range of etiologies, including autoimmune, metabolic, and developmental disorders. The nuclear receptors DAX1 (NR0B1) and steroidogenic factor-1 (SF1/Ad4BP, NR5A1) play an important role in adrenal development and function, and mutations in these transcription factors have been found in patients with adrenal...

mediator complex subunit 12 (med12) is a part of the mediator complex, which is believed to regulate transcription. med12 is mutated at high frequency and with different mutation frequencies in uterine fibroids and breast fibroadenomas of different populations. this study aimed to analyze med12 mutations in senegalese population. med12 was sequenced in the tumoral tissues and blood samples of s...

background: familial mediterranean fever (fmf) is an autosomal recessive genetic disorder characterized by recurrent episodes of self-limited fever and serosal tissues inflammation. methods: to evaluate clinical symptoms and common genetic mutations in southwestern iranian patients with fmf, 20 unrelated patients were enrolled in this study based on clinical criteria. a panel of 12 common mefv ...

Gorlin syndrome (also known as basal cell nevus syndrome) is a hereditary condition characterized by development of numerous epidermal and follicular tumors. Mutations in theSHH signaling pathway are key drivers this disease. It currently unknown whether SHH mutations non-epidermal types play role phenotypes, the tumor microenvironment, or altered skin development. Through lineage tracing using...

Hereditary angioedema is a rare genetically determined disease characterized by the recurrent of various localizations with no response to systemic glucocorticosteroids, antihistamines.
 In majority hereditary cases C1-inhibitor level or its functional activity decreased due mutation in SERPING1 gene. recent years, expansion genetic diagnostic recourses significantly changed our understand...

In patients with chronic myelogenous leukemia (CML) mutations of the BCR-ABL kinase domain (KD) have been identified as the leading cause of acquired resistance to imatinib, while the mechanisms underlying the persistence of minimal residual disease (MRD) are unknown. In this issue of Blood, Chu and colleagues report several patients with KD mutations at the time of complete cytogenetic respons...

Many tumors have highly rearranged genomes, but a major unknown is the relative importance and timing of genome rearrangements compared to sequence-level mutation. Chromosome instability might arise early, be a late event contributing little to cancer development, or happen as a single catastrophic event. Another unknown is which of the point mutations and rearrangements are selected. To addres...

BRCA1 gene mutations account for nearly all families with multiple cases of both early onset breast and/or ovarian cancer and about 30% of hereditary breast cancer. Although to date more than 1,237 distinct mutations, polymorphisms, and variants have been described, several mutations have been found to be recurrent in this gene. We have analyzed 63 Chilean breast/ovarian cancer families for eig...

Introduction the possible range of clinical manifestations associated to the different mutations associated to autoinflammatory disorders is still largely unknown. A registry of hereditary auto-inflammatory disorders mutations is available on the web (Infevers, http://fmf.igh.cnrs.fr/ISSAID/infevers/). This registry gathers updated information on all mutations responsible for hereditary inflamm...

Abstract Germline loss-of-function (LOF) variants in Elongator complex protein 1 (ELP1) are the most prevalent predisposing genetic events childhood medulloblastoma (MB). ELP1 germline carriers develop SHH-MBs that exhibit coincident somatic PTCH1 mutations and universal loss-of-heterozygosity of remaining allele through chromosome 9q deletion. The molecular, biochemical, cellular mechanisms by...