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Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.
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Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
TLDR
A minimal cosegregating region containing the AD3 gene is defined, and at least 19 different transcripts encoded within this region corresponds to a novel gene whose product is predicted to contain multiple transmembrane domains and resembles an integral membrane protein.
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Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
TLDR
Analysis of the nucleotide sequence of the open reading frame of the E5-1 gene led to the discovery of two missense substitutions at conserved amino-acid residues in affected members of pedigrees with a form of familial AD that has a later age of onset than the AD3 subtype (50–70 years versus 30–60 years for AD3).
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Erratum: Identification of the Cystic Fibrosis Gene: Genetic Analysis
TLDR
Extended haplotype data based on DNA markers closely linked to the putative disease gene locus suggest that the remainder of the cystic fibrosis mutant gene pool consists of multiple, different mutations.
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Mutations in SBDS are associated with Shwachman–Diamond syndrome
TLDR
Identification of disease-associated mutations in an uncharacterized gene, SBDS, in the interval of 1.9 cM at 7q11 is reported, suggesting that SDS may be caused by a deficiency in an aspect of RNA metabolism essential for development of the exocrine pancreas, hematopoiesis and chrondrogenesis.
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Erratum: Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA
TLDR
A deletion of three base pairs that results in the omission of a phenylalanine residue at the center of the first predicted nucleotide-binding domain was detected in CF patients.
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The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene
TLDR
It is shown that this sequence forms part of a P–type ATPase gene (referred to here as Wc1) that is very similar to MNK, with six putative metal binding regions similar to those found in prokaryotic heavy metal transporters.
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Bone progenitor dysfunction induces myelodysplasia and secondary leukemia
TLDR
It is shown that deletion of Dicer1 specifically in mouse osteoprogenitors, but not in mature osteoblasts, disrupts the integrity of haematopoiesis, and primary stromal dysfunction can result in secondary neoplastic disease, supporting the concept of niche-induced oncogenesis.
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Identification of the cystic fibrosis gene: chromosome walking and jumping.
TLDR
Several transcribed sequences and conserved segments were identified in this cloned region and one corresponds to the cystic fibrosis gene and spans approximately 250,000 base pairs of genomic DNA.
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Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice
TLDR
The data demonstrate that the preseniiin mutations cause a dominant gain of function and may induce AD by enhancing Aβ42 production, thus promoting cerebral β-amyloidosis.
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