The mammalian auditory sensory epithelium (the organ of Corti) contains a number of unique cell types that are arranged in ordered rows. Two of these cell types, inner and outer pillar cells (PCs), are arranged in adjacent rows that form a boundary between a single row of inner hair cells and three rows of outer hair cells (OHCs). PCs are required for auditory function, as mice lacking PCs owin...

A number of homoeotic mutants have been localized to the proximal right arm of chromosome 3 of Drosophila melanogaster. These include seven alleles of Antennapedia (Antp), which is associated with a transformation of antennae into legs; Nasobemia (Ns), which causes the same phenotype as Antp but was considered by Gehring (1966) not to be an allele; and three genes causing a transformation of se...

Resistance to TKI treatment is a major obstacle in effective treatment of NSCLC. Besides EGFR mutation status, the mechanisms involved are largely unknown. Some evidence supports a role for microRNA 21 in modulating drug sensitivity of chemotherapy but its role in NSCLC TKI resistance still remains unexplored. This study aimed to investigate whether NSCLC miR-21 mediated resistance to TKIs also...

Previous MRI studies of functional connectivity in pre-symptomatic mutation carriers of Huntington's disease (HD) have shown dysfunction of the Default-Mode Network (DMN). No data however are currently available on the DMN alterations in the symptomatic stages of the disease, which are characterized by cortical atrophy involving several DMN nodes. We assessed DMN integrity and its possible corr...

BACKGROUND Loss-of-function mutations in the GBA gene are associated with more severe cognitive impairment in PD, but the nature of these deficits is not well understood and whether common GBA polymorphisms influence cognitive performance in PD is not yet known. METHODS We screened the GBA coding region for mutations and the E326K polymorphism in 1,369 PD patients enrolled at eight sites from...

background more than two billion people have been exposed to hepatitis b virus (hbv) worldwide. furthermore, four hundred million of them are infected with chronic hbv infection. the predominant mutation of the precore region involves a g to a change at nucleotide1896, which creates a premature stop codon at codon 28. two mutations of a1762t and g1764a are reported as the most prevalent mutatio...

Prostate cancer (PC) has the highest degree of genetic transmission of any form of malignancy. In some families, the hereditary pattern is so strong as to mimic an autosomal dominance trait. We reviewed the known predisposing genetic markers to assess possible strategies for screening of families at risk. We carried out a systematic literature search using the Pubmed service of the National Cen...

INTRODUCTION Pachyonychia congenita (PC) is a rare skin disorder caused by an autosomal dominant mutation in one of five genes encoding keratin (K6a, K6b, K6c, K16 or K17; each defining one PC subtype). Pain is a prominent symptom, but its severity and type are poorly characterized. METHODS In total, 35 genotyped US patients with PC consented to clinical assessment including the quality of li...