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Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I

Known as: NCF1, DEFICIENCY OF, CGD, Autosomal Recessive Cytochrome B-Positive, Type I, SOLUBLE OXIDASE COMPONENT II, DEFICIENCY OF 
 
National Institutes of Health

Related topics

Related topics

10 relations
Aspergillus infectionsAutosomal recessive inheritanceEczemaEscherichia coli Infections
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Broader (2)

Chronic granulomatous diseaseNADPH Oxidase

Papers overview

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Highly Cited
2011
Highly Cited
2011
The CDG1 kinase mediates brassinosteroid signal transduction from BRI1 receptor kinase to BSU1 phosphatase and GSK3-like kinase BIN2.
The brassinosteroid (BR) signaling pathway includes two receptor-like kinases (BRI1 and BAK1), a plasma membrane-associated… Expand
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Highly Cited
2003
Highly Cited
2003
A longitudinal study of quality of life outcomes in older adults requesting implant prostheses and complete removable dentures.
A longitudinal clinical trial involving 103 subjects was undertaken to assess the impact of oral implant therapy on the… Expand
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Highly Cited
2001
Highly Cited
2001
A patient-based assessment of implant-stabilized and conventional complete dentures.
STATEMENT OF PROBLEM Outcomes of oral implant therapy have been described primarily in terms of implant survival rates and the… Expand
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Highly Cited
2001
Highly Cited
2001
An assessment of sensitivity to change of the Oral Health Impact Profile in a clinical trial.
UNLABELLED Patient-based assessment of oral health outcomes is of growing interest. Measurement of change following clinical… Expand
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Highly Cited
1998
Highly Cited
1998
Three cdg operons control cellular turnover of cyclic di-GMP in Acetobacter xylinum: genetic organization and occurrence of conserved domains in isoenzymes.
Cyclic di-GMP (c-di-GMP) is the specific nucleotide regulator of beta-1,4-glucan (cellulose) synthase in Acetobacter xylinum. The… Expand
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1998
1998
Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1
Carbohydrate-deficient glycoprotein syndrome type 1 (CDG1; McKusick No. 212065) is an autosomal recessively inherited disease… Expand
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Highly Cited
1998
Highly Cited
1998
Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.
Carbohydrate-deficient-glycoprotein syndrome type 1 (CDG1; also known as "Jaeken syndrome") is an autosomal recessive disorder… Expand
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Highly Cited
1997
Highly Cited
1997
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
Carbohydrate-deficient glycoprotein syndrome type 1 (CDG1 or Jaeken syndrome) is the prototype of a class of genetic multisystem… Expand
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1997
1997
PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13.
We have cloned the human homologue of SEC53 or yeast phosphomannomutase (HGMW-approved symbol PMM1) from a liver cDNA library… Expand
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1996
1996
Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1).
We have analyzed a series of polymorphic markers on chromosome 16p13 in 17 families with carbohydrate-deficient glycoprotein… Expand
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