Showing papers in "Molecular Genetics and Metabolism in 1999"

TL;DR: Between these different mechanisms, Alu elements have not only contributed a great deal to the evolution of the genome but also continue to contribute to a significant portion of human genetic diseases.

TL;DR: This study provides the first genetic link between vitamin B(12) deficiency and NTDs and supports the multifactorial origins of these common birth defects.

TL;DR: Because the beige mouse demonstrates many characteristics similar to those of human CHS patients, including dilution of coat color, recurrent infections, and the presence of giant granules, it is considered the animal homologue of CHS.

TL;DR: Characterizing the subcellular location of the NPC1 protein suggests that U18666A may inhibit the retrograde transport of NPC1 from lysosomes to late endosomes for subsequent transfer to the trans-Golgi network.

TL;DR: All clinical physiopathological discrepancies were reexamined and the results strongly suggested that retGC1 gene mutations are responsible for congenital stationary severe cone-rod dystrophy, while RPE65 gene mutations have been strongly suggested for congenitals severe but progressive rod-cone dystrophies.

TL;DR: Treatment is based upon avoidance of fasting and/or exercise, a low-fat diet enriched with medium chain triglycerides and carnitine ("severe" CPT2 deficiency) and Prenatal diagnosis may be offered for pregnancies at a 1/4 risk of infantile/severe-type C PT2 deficiency.

TL;DR: It is hypothesized that the failure to find an increased frequency of ATM mutations in large cancer cohorts, especially breast cancer, is contrary to what was anticipated based on the increased cancer susceptibility of obligate ATM heterozygotes from families with ataxia-telangiectasia (A-T), and this paradox might be resolved if two types of ATM heter homozygotes exist and the phenotypes differ.

TL;DR: Recent literature concerning this recurrent topic is critically reviewed and glutamine supplementation in the clinical diet can be used to maintain high levels of glutathione and to avoid oxidative stress damage.

TL;DR: The IGFBP-related proteins (IGFBP-rPs), an emerging group of proteins which bind IGFs with low affinity and also play important roles in cell growth and differentiation, appear to have emerging roles in the mechanisms underlying human cancer.

TL;DR: The recently solved crystal structures of human phenylalanine hydroxylase provide a structural scaffold for explaining the effects of some of the mutations in the PAH gene and suggest future biochemical studies that may increase the understanding of the PKU mutations.

TL;DR: An overview of the presently known genes causing human holoprosencephaly and candidate genes involved in forebrain development identified in other systems are presented and a model is discussed for how these genes may interact within and between several different signaling pathways to direct the formation of the forebrain.

TL;DR: The frequency of the normal (C) and the mutant (T) alleles and the prevalence of the expected (CC, CT and TT) genotypes in 250 healthy Mexican women and Comparisons with studies done in Holland, Ireland, the United States, Japan, and other ethnic groups showed highly significant differences.

TL;DR: Improved PPT assay is simple, sensitive, and robust and will facilitate the definition of the full clinical spectrum associated with a deficiency of PPT, showing the feasibility of rapid pre- and postnatal diagnosis of INCL and its variants.

TL;DR: It is speculated that PCR amplification combined with species-specific probe hybridization not only will represent an improvement over culture-based methods in terms of speed, sensitivity, and cost, but will also allow for the identification of unculturable bacteria and emerging or reemerging pathogenic organisms.

TL;DR: The CLN3 gene defective in JNCL encodes a novel 438 amino acid protein, which modulates endogenous and vincristine-activated ceramide, and therefore suppresses apoptosis by impacting generation of ceramide.

TL;DR: Treatment of calf thymus DNA with these flavonoids or ascorbate plus copper produced 8-hydroxy-2'-deoxyguanosine and Mutagenic and carcinogenic action of flavonoid may be explained by the prooxidant effects of the compounds.

TL;DR: The catalytic domain of the human enzyme and the enzyme from Pseudomonas mevalonii are proposed as the canonical sequences for Class I and Class II HMG-CoA reductases, respectively, suggesting two distinct pathways for isoprenoid biogenesis in true bacteria.

TL;DR: The observation of mutations in different genes in atients and families with syndromal craniosynososis confirmed the proposed genetic heterogeneity and supported the idea of addiional genetic and environmental factors modifyng the initial mutation effect and/or contributing to he pathogenesis in isolated cases of unknown etiolgy.

TL;DR: A robust DNA diagnostic test for this disorder involving nonnested genomic amplification of the X-ALD gene, followed by fluorescent dye-primer sequencing and analysis is developed and validated and provides a highly reliable means of determining carrier status in women at risk for transmitting X-ald.

TL;DR: Although it is not easily demonstrated in conventional assays, CESD is distinct from WD in that at least one mutant allele has the potential to produce enough residual enzymatic function to ameliorate the phenotype; in the majority of CESD cases this may come from a single, easily detected, splicing mutation in one allele.

TL;DR: Definition of the molecular defects is of great value for genetic counseling and may be of aid in establishing prognosis.

TL;DR: Time course analyses show that TCP80 functions at the initiation phase of GCase mRNA translation, probably by inhibiting its binding to polysomes, and has RNA-binding (TCP30) and inhibitory domains that function to modulate translation of several mRNAs.

TL;DR: The addition of D17S829 primers (266 bp apart) to the PCR created a multiplex PCR system useful for diagnosing cystinosis patients homozygous and heterozygous for the 65-kb deletion.

TL;DR: Human kidney PAH gene expression was investigated by RNase protection assay analyses, RNA in situ hybridization, immunohistochemistry, enzyme assay, and cDNA isolation, allowing the conclusive verification of a functional PAH enzyme in human kidney.

TL;DR: FAK is demonstrated to be another tyrosine kinase sensitive to the destabilizing effects of benzoquinone ansamycins and further show that small molecule-mediated pharmacologic modulation of FAK protein level is a feasible approach to the interdiction ofFAK function.

TL;DR: The monitoring of antibody production during replacement therapy is an important consideration for patient management, as high-titer antibodies can affect the safety and efficacy of the therapy.

TL;DR: Partial phenotypic correction of cystinotic fibroblasts by transfection with normal cDNA or a cDNA derived from a mutation causing intermediate cyst inosis is demonstrated.

TL;DR: The cloning of a third gene (hVLCS-H2) is reported, located on human chromosome 19 and encodes a 690-amino-acid protein that is likely to be in fatty acid elongation or complex lipid synthesis rather than in degradation, and is expressed primarily in liver.

TL;DR: The fundamental embryological processes involved in closing the neural tube, the relevant epidemiologic data on folic acid supplementation and relative NTD risk, as well as several recent studies of candidate genes for NTD sensitivity that are involved in folate transport and metabolism are reviewed.