Marleigh. Age: 31.
The mechanisms of the basolateral targeting of G protein-coupled receptors remain largely unknown. Mutagenesis experiments have allowed us to identify the basolateral sorting signals of the TSH and LH receptors expressed in Madin-Darby canine kidney cells and thyroid follicular FRT cells. Unexpectedly these signals amino acids — and —, respectively share an unusual localization in the distal part of the intracellular domain of the receptors at a marked distance from the membrane. When grafted onto the pneurotropin receptor, these signals redirect this normally apically expressed protein to the basolateral cell surface.
Vivian. Age: 27.
Computational (Epi-)genetics of Cancers
Rev cubana med [online]. ISSN A case with history of chronic liver disease of cirrhotic type and non determined cause diagnosed since was presented. The patient had had digestive hemorrhages at about 2 years before and had been transfused due to severe anemia.
Harley. Age: 31.
Objective: The aim of this study is to identify the molecular defect of three unrelated individuals with late-onset predominant distal myopathy; to describe the spectrum of phenotype resulting from the contributing role of two variants in genes located on two different chromosomes; and to highlight the underappreciated complex forms of genetic myopathies. Patients and methods: Clinical and laboratory data of three unrelated probands with predominantly distal weakness manifesting in the sixth-seventh decade of life, and available affected and unaffected family members were reviewed. Next-generation sequencing panel, whole exome sequencing, and targeted analyses of family members were performed to elucidate the genetic etiology of the myopathy. Results: Genetic analyses detected two contributing variants located on different chromosomes in three unrelated probands: a heterozygous pathogenic mutation in SQSTM1 c.
An index case from a consanguineous family and nineteen healthy female relatives were recruited after informed consent. Along with this family, 14 other index cases with family history of breast cancer were also recruited. For the control populations we recruited 48 healthy women with no cancer diagnosis and 48 women diagnosed with sporadic breast cancer without family history. Genomic DNA was extracted from peripheral blood.