... collaborators previously reported the identification of a ... S. N. The TSGIO1 tumor susceptibility gene in breast cancer and that truncated transcripts ...

Congenital analbuminemia is a rare autosomal recessive disorder characterized by the absence of serum albumin, or by its presence in very low concentrations. Up to now, only 43 cases have been reported. There is little information about analbuminemia, and no operation on an analbuminemic patient has been reported. This, we believe, is the 1st report of an operation on an ...

Congenital analbuminemia is a rare autosomal recessive disorder characterized by the absence of serum albumin, or by its presence in very low concentrations. Up to now, only 43 cases have been reported. There is little information about analbuminemia, and no operation on an analbuminemic patient has been reported. This, we believe, is the 1st report of an operation on an ...

... cell count revealed relative monocytosis and basophilia. Survey radiographs showed truncation and lysis of the caudal vertebrae ... evaluated. No abnormalities were found on full-body radiographs. Initial...

BackgroundAbnormalities in lipid metabolism and transport are hallmarks in analbuminemic Nagase rats (NAR) and humans. Triglyceridemia is nearly 3- to 5-fold higher in female NAR than in control Sprague-Dawley rats (SDR). Also, NAR present with a severe plasma free fatty acid (FFA) deficit. There are conflicting results regarding the mechanisms underlying ...

Autosomal-dominant congenital stromal corneal dystrophy (CSCD) is a human genetic disease characterized by corneal opacities beginning shortly after birth. It is linked to a frameshift mutation in decorin, resulting in a C-terminal truncation lacking 33 amino acids that includes the "ear" repeat, a feature specific for small leucine-rich proteoglycans. Our goals are to ...

The primary cilium is emerging as a crucial regulator of signaling pathways central to vertebrate development and human disease. We identified atrioventricular canal 1 (avc1), a mouse mutation that caused VACTERL association with hydrocephalus, or VACTERL-H. We showed that avc1 is a hypomorphic mutation of intraflagellar transport protein 172 (Ift172), required for ciliogenesis and Hedgehog (Hh) ...

Pathological processing of tau protein during the formation and maturation of neurofibrillary tangles (NFTs) includes abnormal phosphorylation, conformational changes, and truncation of the C-terminus at aspartic-acid(421) (apoptotic product) and glutamic-acid(391) residues. Abnormal phosphorylation and misfolding may serve as ...

The human melanoma cell lines MM96L, A2058 and HT144 were examined for sensitivity to ionizing radiation and UVB radiation. HT144 demonstrated a significant increase in sensitivity to ionizing and UVB radiation compared with the MM96L and A2058 cells. Sensitivity to both agents was associated with susceptibility to apoptosis. Using a protein truncation assay, a mutation for ...

The human melanoma cell lines MM96L, A2058 and HT144 were examined for sensitivity to ionizing radiation and UVB radiation. HT144 demonstrated a significant increase in sensitivity to ionizing and UVB radiation compared with the MM96L and A2058 cells. Sensitivity to both agents was associated with susceptibility to apoptosis. Using a protein truncation assay, a mutation for ...

Epigenetic changes are among the most common alterations observed in cancer cells, yet the mechanism by which cancer cells acquire and maintain abnormal DNA methylation patterns is not understood. Cancer cells have an altered distribution of DNA methylation and express aberrant DNA methyltransferase 3B transcripts, which encode truncated proteins, some of ...

Since the cloning of the NF1 gene almost four years age, researchers have been working to improve mutation detection in this very large and complex gene, yet no laboratory has reported finding mutations in more than 10-15% of the NF1 patients screened. There remains a great need for an efficient and sensitive method of screening for NF1 mutations. Approximately 60 mutations have been reported ...

Our objective was to determine the yield and cost of standardized laboratory testing of HIV-infected patients entering medical care after testing positive for HIV. An HIV staging and referral clinic in a municipal public hospital was our site for a cross-sectional study, and 308 patients were evaluated in the clinic between February 1, 1990 and October 1, 1991. Patients underwent standardized ...

In this study, we examined the role of recombination at the telomeres of the yeast Kluyveromyces lactis. We demonstrated that an abnormally long and mutationally tagged telomere was subject to high rates of telomere rapid deletion (TRD) that preferentially truncated the telomere to near-wild-type size. Unlike the case in Saccharomyces cerevisiae, however, ...

Mutations of LAMB2 typically cause autosomal recessive Pierson syndrome, a disorder characterized by congenital nephrotic syndrome, ocular and neurologic abnormalities, but may occasionally be associated with milder or oligosymptomatic disease variants. LAMB2 encodes the basement membrane protein laminin beta2, which is incorporated in specific heterotrimeric laminin isoforms ...

Mutations of LAMB2 typically cause autosomal recessive Pierson syndrome, a disorder characterized by congenital nephrotic syndrome, ocular and neurologic abnormalities, but may occasionally be associated with milder or oligosymptomatic disease variants. LAMB2 encodes the basement membrane protein laminin ?2 which is incorporated in specific heterotrimeric laminin isoforms and ...

Several human progerias, including Hutchinson-Gilford progeria syndrome (HGPS), are caused by the accumulation at the nuclear envelope of farnesylated forms of truncated prelamin A, a protein that is also altered during normal aging. Previous studies in cells from individuals with HGPS have shown that farnesyltransferase inhibitors (FTIs) improve nuclear ...

An abnormal spectrin, in which one subunit is truncated, has been detected in a large German family. The inheritance is autosomal dominant. The affected members of the family suffer in widely varying degree from a microcytic hemolytic anemia. The red cell morphology varies correspondingly from smooth elliptocytes to predominantly poikilocytes. The ...

... Title : Truncated-Newton Methods. ... In this thesis, we examine a flexible class of methods, called truncated-Newton methods. ...

Background- Human heart failure is associated with decreased cardiac voltage-gated Na(+) channel current (encoded by SCN5A), and the changes have been implicated in the increased risk of sudden death in heart failure. Nevertheless, the mechanism of SCN5A downregulation is unclear. A number of human diseases are associated with alternative mRNA splicing, which has received comparatively little ...