Browse Items (31 total)

Recombinant adeno-associated virus (AAV) vectors are of interest for cochlear gene therapy because of their ability to mediate the efficient transfer and long-term stable expression of therapeutic genes in a wide variety of postmitotic tissues with…

This paper reports mathematically derived residual risks of being a carrier or being affected with cystic fibrosis following various screening scenarios to assist in interpreting test results and advising patients. While parental screening with 23…

This manuscript reviews the frequencies, symptoms, testing, and reporting of genotypes with the 5T poly-thymidine tract which reduces splicing efficiency in the cystic fibrosis transmembrane conductance regulator ( CFTR) gene in congenital bilateral…

Testing strategies and summary reports for pregnant patients and symptomatic patients being tested for cystic fibrosis (CF; MIM 219700) were developed based upon calculated after (posterior) test risk tables incorporating patient and family…

A simple approach is described to synthesize and clone an inexhaustible supply of any homozygous and/ or heterozygous controls diluted with yeast genomic DNA to mimic human genome equivalents for use throughout the entire multiplex mutation assay. As…

Odontocetes and mysticetes are two extant suborders of cetaceans. It is reported that the former have no sense of olfaction, while the latter can smell in air. To explain the ecological reason why mysticetes still retain their sense of smell, two…

KBG syndrome (OMIM 148050) is a very rare genetic disorder characterized by macrodontia, distinctive craniofacial abnormalities, short stature, intellectual disability, skeletal, and neurologic involvement. Approximately 60 patients have been…

WDR45 and POLR3A are newly recognized genes; each is associated with a distinct neurodegenerative disease. WDR45 is an X-linked gene associated with a dominant form of Neurodegeneration with Brain Iron Accumulation (NBIA), manifested by progressive…

Dominant mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been recently identified as causes of four phenotypically distinct craniosynostosis syndromes, including Crouzon, Jackson-Weiss, Pfeiffer, and Apert syndromes, These data…

The cholesterol 7 alpha -hydroxylase gene (CYP7A1) plays an important role in regulation of bile acid biosynthesis and cholesterol homeostasis. Oxysterol receptor, LXR, stimulates, whereas the bile acid receptor, FXR, inhibits CYP7A1 transcription.…

Mitochondrial sterol 27-hydroxylase (CYP27Al) catalyses sterol side-chain oxidation of bile acid synthesis front cholesterol, and the first reaction of the acidic bile acid biosynthetic pathway. Hydrophobic bile acids suppress human CYP27Al gene…

The karyotypes of 47 pediatric brain tumors (14 cerebellar pilocytic astrocytomas, six cerebral pilocytic astrocytomas, seven anaplastic astrocytomas and glioblastomas, nine medulloblastomas [PNETs], one cerebral neuroblastoma, four ependymomas, and…

Six squamous cell carcinomas of the vulva (SCV) were karyotyped in short-term culture and in early passages as established cell lines. Each tumor was cytogenetically distinct, contained multiple chromosome rearrangements, and was karyotypically…

Rubinstein-Taybi syndrome (RTS) and Cornelia de Lange syndrome (CdLS) are genetically heterogeneous multiple anomalies syndromes, each having a distinctive facial gestalt. Two genes (CREBBP and EP300) are known to cause RTS, and five (NIPBL, SMC1A,…

During development and evolution, the morphology of ectodermal organs can be modulated so that an organism can adapt to different environments. We have proposed that morphoregulation can be achieved by simply tilting the balance of molecular…

Stem cell therapy for the prevention and treatment of cardiac dysfunction holds significant promise for patients with ischemic heart disease. Excitingly early clinical studies have demonstrated safety and some clinical feasibility, while at the same…

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