621-50-1

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Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.

P Jézéquel et al.

Clinical chemistry, 41(6 Pt 1), 833-835 (1995-06-01)

Congenital bilateral absence of the vas deferens (CBAVD) is found in most males with cystic fibrosis (CF), but this malformation can be observed without any pulmonary or digestive features. We have analyzed 13 exons of the CF gene in a

Disulfide bond structure of human epidermal growth factor receptor.

Y Abe et al.

The Journal of biological chemistry, 273(18), 11150-11157 (1998-06-06)

The extracellular domain of the human epidermal growth factor receptor (sEGFR) consists of 621 amino acid residues, including 50 cysteines. The connections of the 25 disulfide bonds in the recombinant sEGFR protein, obtained from Chinese hamster ovary cells, have been

SNaPshot assay for the detection of the most common CFTR mutations in infertile men.

Predrag Noveski et al.

PloS one, 9(11), e112498-e112498 (2014-11-12)

Congenital bilateral absence of vas deferens (CBAVD) is the most common CFTR-related disorder (CFTR-RD) that explains about 1-2% of the male infertility cases. Controversial data have been published regarding the involvement of CFTR mutations in infertile men with non-obstructive azoospermia

Duramycin increases intracellular calcium in airway epithelium.

M M Cloutier et al.

Membrane biochemistry, 10(2), 107-118 (1993-04-01)

Duramycin increases short-circuit current (Isc) and net Cl- secretion in tracheal epithelium. We measured the intracellular free calcium ([Ca2+]i) response to duramycin using Indo-1 and bovine and canine tracheal cell suspensions, and the effect of an intracellular calcium chelator, BAPTA

Identification and characterization of a novel polycystin family member, polycystin-L2, in mouse and human: sequence, expression, alternative splicing, and chromosomal localization.

L Guo et al.

Genomics, 64(3), 241-251 (2000-04-11)

Polycystins-1, -2, -L, and -REJ are the four known members of the polycystin family of proteins. In this study, we describe a fifth member of the family, polycystin-L2, encoded by PKD2L2 in human and Pkd2l2 in mouse. Full-length cDNA sequences

Identification of quantitative trait loci that regulate obesity and serum lipid levels in MRL/MpJ x SJL/J inbred mice.

Apurva K Srivastava et al.

Journal of lipid research, 47(1), 123-133 (2005-10-29)

The total body fat mass and serum concentration of total cholesterol, HDL cholesterol, and triglyceride (TG) differ between standard diet-fed female inbred mouse strains MRL/MpJ (MRL) and SJL/J (SJL) by 38-120% (P < 0.01). To investigate genetic regulation of obesity

Short-term leptin-dependent inhibition of hepatic gluconeogenesis is mediated by insulin receptor substrate-2.

Christian Anderwald et al.

Molecular endocrinology (Baltimore, Md.), 16(7), 1612-1628 (2002-06-29)

Leptin has both insulin-like and insulin-antagonistic effects on glucose metabolism. To test whether leptin interferes directly with insulin signaling, we perfused isolated rat livers with leptin (0.1, 0.5, 5, and 25 nmol/liter), leptin + insulin (5 nmol/liter + 10 nmol/liter)

The role of roughage provision on the absorption and disposition of the mycotoxin deoxynivalenol and its acetylated derivatives in calves: from field observations to toxicokinetics.

Bonnie Valgaeren et al.

Archives of toxicology, 93(2), 293-310 (2018-12-12)

A clinical case in Belgium demonstrated that feeding a feed concentrate containing considerable levels of deoxynivalenol (DON, 1.13 mg/kg feed) induced severe liver failure in 2- to 3-month-old beef calves. Symptoms disappeared by replacing the highly contaminated corn and by stimulating

Application of multiplex ARMS and SSCP/HD analysis in molecular diagnosis of cystic fibrosis in Indian patients.

Tester F Ashavaid et al.

Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology, 9(2), 59-66 (2005-09-03)

Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the CFTR gene. The most severe, DeltaF508, mutation accounts for nearly 70% of CF cases worldwide. Besides DeltaF508, there are other point mutations, namely G542X, G551D, R553X, N1303K

[Mutations and polymorphisms in CFTR genes in infertile men with oligospermia or azoospermia].

Jelena Kusić et al.

Srpski arhiv za celokupno lekarstvo, 130(1-2), 1-6 (2002-06-21)

Impaired infertility of the male partner is causative or contributOry to in up to one half of all couples unable to conceive spontaneously. A considerable number of genes are now known that have an essential function in human reproduction and

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