Positional cloning of the APECED gene
K Nagamine, P Peterson, HS Scott, J Kudoh… - Nature …, 1997 - nature.com
Autoimmune polyglandular syndrome type I (APS 1, also called APECED) is an autosomal-
recessive disorder that maps to human chromosome 21q22. 3 between markers D21S49 …
recessive disorder that maps to human chromosome 21q22. 3 between markers D21S49 …
[PDF][PDF] LTRPC2 Ca2+-permeable channel activated by changes in redox status confers susceptibility to cell death
Y Hara, M Wakamori, M Ishii, E Maeno, M Nishida… - Molecular cell, 2002 - cell.com
Redox status changes exert critical impacts on necrotic/apoptotic and normal cellular
processes. We report here a widely expressed Ca 2+-permeable cation channel, LTRPC2 …
processes. We report here a widely expressed Ca 2+-permeable cation channel, LTRPC2 …
APECED mutations in the autoimmune regulator (AIRE) gene
M Heino, P Peterson, J Kudoh, N Shimizu… - Human …, 2001 - Wiley Online Library
Autoimmune polyendocrinopathy candidiasis‐ectodermal dystrophy (APECED) is a rare
recessively inherited disorder caused by mutations in the AIRE (autoimmune regulator) …
recessively inherited disorder caused by mutations in the AIRE (autoimmune regulator) …
A physical map of the human genome.
JD McPherson, M Marra, LD Hillier, RH Waterston… - Nature, 2001 - go.gale.com
The International Human Genome Sequencing Consortium (IHGSC) used a hierarchical
mapping and sequencing strategy to construct the working draft of the human genome. This …
mapping and sequencing strategy to construct the working draft of the human genome. This …
A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming
Loss-of-function mutations in the FLG (filaggrin) gene cause the semidominant keratinizing
disorder ichthyosis vulgaris and convey major genetic risk for atopic dermatitis (eczema) …
disorder ichthyosis vulgaris and convey major genetic risk for atopic dermatitis (eczema) …
Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22. 3, related to the cytosine-5-methyltransferase 3 gene family
We have isolated the DNMT3L gene that is related to the cytosine-5-methyltransferase 3
(DNMT3) family. The gene is located on chromosome 21q22. 3 between the AIRE and the …
(DNMT3) family. The gene is located on chromosome 21q22. 3 between the AIRE and the …
SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7
Adrenal hypoplasia is a rare, life-threatening congenital disorder. Here we define a new
form of syndromic adrenal hypoplasia, which we propose to term MIRAGE (myelodysplasia …
form of syndromic adrenal hypoplasia, which we propose to term MIRAGE (myelodysplasia …
Molecular cloning of a novel putative Ca2+ channel protein (TRPC7) highly expressed in brain
K Nagamine, J Kudoh, S Minoshima, K Kawasaki… - Genomics, 1998 - Elsevier
We have isolated cDNA clones for a novel human protein, TRPC7 (transient receptor
potential-related channels), which consists of 1503 amino acid residues from the fetal brain …
potential-related channels), which consists of 1503 amino acid residues from the fetal brain …
Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness
HS Scott, J Kudoh, M Wattenhofer, K Shibuya, A Berry… - Nature …, 2001 - nature.com
Approximately 50% of childhood deafness is caused by mutations in specific genes.
Autosomal recessive loci account for approximately 80% of nonsyndromic genetic deafness …
Autosomal recessive loci account for approximately 80% of nonsyndromic genetic deafness …
APECED: a monogenic autoimmune disease providing new clues to self-tolerance
P Peterson, K Nagamine, H Scott, M Heino, J Kudoh… - Immunology Today, 1998 - cell.com
The cloning of AIRE, the gene for autoimmune polyendocrinopathy–candidiasis–ectodermal
dystrophy (APECED) promises to unravel some of the mysteries of autoimmunity. Here, Pärt …
dystrophy (APECED) promises to unravel some of the mysteries of autoimmunity. Here, Pärt …