Publications
134 results found
Permutt MA, Chiu K, Ferrer J, et al., 1998, Genetics of type II diabetes, RECENT PROGRESS IN HORMONE RESEARCH, VOL 53, Vol: 53, Pages: 201-216, ISSN: 0079-9963
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- Citations: 9
Stoffers DA, Ferrer J, Clarke WL, et al., 1997, Early-onset type-II diabetes mellitus (MODY4) linked to IPF1, NATURE GENETICS, Vol: 17, Pages: 138-139, ISSN: 1061-4036
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- Citations: 714
Stoffers DA, Ferrer J, Clarke WL, et al., 1997, Early-onset type-II diabetes mellitus (MODY4) linked to IPF1., Nat Genet, Vol: 17, Pages: 138-139, ISSN: 1061-4036
Inoue H, Ferrer J, WarrenPerry M, et al., 1997, Sequence variants in the pancreatic islet beta-cell inwardly rectifying K+ channel Kir6.2 (Bir) gene - Identification and lack of role in Caucasian patients with NIDDM, DIABETES, Vol: 46, Pages: 502-507, ISSN: 0012-1797
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- Citations: 96
Ferrer J, Wasson J, Schoor KD, et al., 1997, Mapping novel pancreatic islet genes to human chromosomes, DIABETES, Vol: 46, Pages: 386-392, ISSN: 0012-1797
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- Citations: 19
Inoue H, Ferrer J, Welling CM, et al., 1996, Sequence Variants in the Sulfonylurea Receptor (SUR) Gene Are Associated With NIDDM in Caucasians, Diabetes, Vol: 45, Pages: 825-831, ISSN: 0012-1797
<jats:p>NIDDM is a common heterogeneous disorder, the genetic basis of which has yet to be determined. The sulfonylurea receptor (SUR) gene, now known to encode an integral component of the pancreatic β-cell ATP-sensitive potassium channel, IKATP, was investigated as a logical candidate for this disorder. The two nucleotide-binding fold (NBF) regions of SUR are known to be critical for normal glucose regulation of insulin secretion. Thus, singlestrand conformational polymorphism analysis was used to find sequence changes in the two NBF regions of the SUR gene in 35 NIDDM patients. Eight variants were found; and three were evaluated in two Northern European white populations (Utah and the U.K.): 1) a missense mutation in exon 7 (S1370A) was found with equal frequency in patients (n = 223) and control subjects (n = 322); 2) an ACC→ACá¹® silent variant in exon 22 (T761T) was more common in patients than in control subjects (allele frequencies 0.07 vs. 0.02, P = 0.0008, odds ratio (OR) 3.01, 95% CI 1.54–5.87); and 3) an intronic t→c change located at position –3 of the exon 24 splice acceptor site was also more common in patients than in control subjects (0.62 vs. 0.46, P &lt; 0.0001, OR 1.91, 95% Cl 1.50–2.44). The combined genotypes of exon 22 C/T or T/T and intron 24 –3c/–3c occurred in 8.9% of patients and 0.5% of control subjects (P &lt; 0.0001, OR 21.5,95% CI 2.91–159.6). These results suggest that defects at the SUR locus may be a major contributor to the inherited basis of NIDDM in Northern European Caucasians.</jats:p>
Inoue H, Ferrer J, Welling CM, et al., 1996, Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM in Caucasians, DIABETES, Vol: 45, Pages: 825-831, ISSN: 0012-1797
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- Citations: 136
Tanizawa Y, Matsubara A, Ueda K, et al., 1996, A human pancreatic islet inwardly rectifying potassium channel: cDNA cloning, determination of the genomic structure and genetic variations in Japanese NIDDM patients, DIABETOLOGIA, Vol: 39, Pages: 447-452, ISSN: 0012-186X
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- Citations: 11
Ferrer J, Benito C, Gomis R, 1995, Pancreatic Islet GLUT2 Glucose Transporter mRNA and Protein Expression in Humans With and Without NIDDM, Diabetes, Vol: 44, Pages: 1369-1374, ISSN: 0012-1797
<jats:p>GLUT2 glucose transporter mRNA has been shown to be underexpressed in pancreatic islets of numerous animal models of non-insulin-dependent diabetes mellitus (NIDDM). It has been proposed that this molecular defect contributes to the pathogenesis of diabetes, although information concerning the expression of GLUT2 in human pancreatic islet tissue is lacking. In contrast to the high abundance of GLUT2 in rat islets, human islets were found to express distinctly low levels of this glucose transporter mRNA and protein. Thus, a sensitive competitive reverse transcription-polymerase chain reaction assay was developed to quantify human GLUT2 mRNA. We obtained pancreases from 4 human organ donors with previously diagnosed NIDDM and 11 nondiabetic donors and found no significant differences in GLUT2 mRNA between the two groups. GLUT2 mRNA was 0.24 ± 0.08 amol/μg RNA (mean ± SE) in pancreases from humans with diabetes and 0.27 ± 0.06 amol/μg RNA in those without this diagnosis. Similarly, human pancreatic islet GLUT2 protein was measured by immunoblot and found to be present at similar levels in two individuals with diabetes relative to six control samples. These results thus demonstrate the existence of species differences in the abundance of islet GLUT2 mRNA and protein. Furthermore, the analysis of isletGLUT2 in a small sample of human organ donors with and without diabetes raises the possibility that decreased β-cell GLUT2 may not represent a widespread feature of humans with NIDDM.</jats:p>
FERRER J, BENITO C, GOMIS R, 1995, PANCREATIC-ISLET GLUT2 GLUCOSE-TRANSPORTER MESSENGER-RNA AND PROTEIN EXPRESSION IN HUMANS WITH AND WITHOUT NIDDM, DIABETES, Vol: 44, Pages: 1369-1374, ISSN: 0012-1797
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- Citations: 64
FERRER J, NICHOLS CG, MAKHINA EN, et al., 1995, PANCREATIC-ISLET CELLS EXPRESS A FAMILY OF INWARDLY RECTIFYING K+ CHANNEL SUBUNITS WHICH INTERACT TO FORM G-PROTEIN-ACTIVATED CHANNELS, JOURNAL OF BIOLOGICAL CHEMISTRY, Vol: 270, Pages: 26086-26091, ISSN: 0021-9258
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- Citations: 69
Riggs AC, Tanizawa Y, Aoki M, et al., 1995, Characterization of the LIM/Homeodomain Gene Islet-1 and Single Nucleotide Screening in NIDDM, Diabetes, Vol: 44, Pages: 689-694, ISSN: 0012-1797
<jats:p>Islet-1 (Isl-1) is a unique transcription factor that binds to the enhancer region of the insulin gene. To evaluate this gene in non-insulin-dependent diabetes mellitus (NIDDM), a full-length human Isl-1 cDNA was isolated and the genomic structure was characterized. The cDNA [2,395 bp plus additional poly(A) residues] contained an open reading frame from an initiator methionine at nucleotide 240 to an opal stop codon at nucleotide 1,286 (GenBank accession number UO7559), encoding a predicted protein of 349 amino acids (39 kDa). From their ends, 23 additional clones were sequenced, revealing 15 incomplete cDNAs and 8 intron-containing partially processed precursors. As determined by Northern blotting and reverse transcriptase–polymerase chain reaction analysis, Isl-1 was most abundantly expressed as a 2.4-kb mRNA in human islets, with a restricted pattern of expression in other adult human tissues. Analysis of genomic clones revealed that Isl-1 is encoded by six exons, varying in size from 168 bp (exon 5) to 1,230 bp (exon 6). Exons 2 and 3 each encode a LIM domain, while the homeodomain is completely contained within exon 4. The sequence of the proximal promoter region, including 426 bp upstream of the 5′ -end of the cDNA, revealed two potential regulatory elements, GCCAGCCGG (–414 to –406) and GCCACAGG (–357 to – 350), each differing by one base form a homologous sequence in the insulin gene (GCCACCGG) that has been shown to be a major positive regulatory element (Boam DSW, Clark AR, Docherty L: Positive and negative regulation of the human insulin gene by multiple trans-acting factors. J Biol Chem 265:8285–8296, 1990). A search by single-strand conformational polymorphism analysis for variants in the Isl-1 gene was undertaken in NIDDM patients. Three variants were identified in the cDNA, none of which alter the predicted amino acid sequence. No variants were found in the promoter. The results of these studies
VALERA A, SOLANES G, FERNANDEZALVAREZ J, et al., 1994, EXPRESSION OF GLUT-2 ANTISENSE RNA IN BETA-CELLS OF TRANSGENIC MICE LEADS TO DIABETES, JOURNAL OF BIOLOGICAL CHEMISTRY, Vol: 269, Pages: 28543-28546, ISSN: 0021-9258
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- Citations: 82
FERRER J, GOMIS R, ALVAREZ JF, et al., 1993, SIGNALS DERIVED FROM GLUCOSE-METABOLISM ARE REQUIRED FOR GLUCOSE REGULATION OF PANCREATIC-ISLET GLUT2 MESSENGER-RNA AND PROTEIN, DIABETES, Vol: 42, Pages: 1273-1280, ISSN: 0012-1797
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- Citations: 43
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