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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
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National Institutes of Health
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Related topics
Related topics
10 relations
Aspergillus infections
Autosomal recessive inheritance
Eczema
Escherichia coli Infections
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Broader (2)
Chronic granulomatous disease
NADPH Oxidase
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
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.
Tae-Wuk Kim
,
Shenheng Guan
,
Alma L. Burlingame
,
Zhi-Yong Wang
Molecular cell
2011
The brassinosteroid (BR) signaling pathway includes two receptor-like kinases (BRI1 and BAK1), a plasma membrane-associated…
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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.
Patrick Finbarr Allen
,
Anne Sinclair McMillan
Clinical oral implants research
2003
A longitudinal clinical trial involving 103 subjects was undertaken to assess the impact of oral implant therapy on the…
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Highly Cited
2001
Highly Cited
2001
A patient-based assessment of implant-stabilized and conventional complete dentures.
Patrick Finbarr Allen
,
Anne Sinclair McMillan
,
David L Walshaw
The Journal of prosthetic dentistry
2001
STATEMENT OF PROBLEM Outcomes of oral implant therapy have been described primarily in terms of implant survival rates and the…
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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.
Patrick Finbarr Allen
,
Anne Sinclair McMillan
,
David D Locker
Community dentistry and oral epidemiology
2001
UNLABELLED Patient-based assessment of oral health outcomes is of growing interest. Measurement of change following clinical…
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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.
R Tal
,
Hing Ngai Wong
,
+11 authors
Moshe Benziman
Journal of bacteriology
1998
Cyclic di-GMP (c-di-GMP) is the specific nucleotide regulator of beta-1,4-glucan (cellulose) synthase in Acetobacter xylinum. The…
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1998
1998
Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1
Susanne Kjaergaard
,
Flemming Skovby
,
Marianne Schwartz
European Journal of Human Genetics
1998
Carbohydrate-deficient glycoprotein syndrome type 1 (CDG1; McKusick No. 212065) is an autosomal recessively inherited disease…
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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.
Gert Matthijs
,
Els Schollen
,
Emile van Schaftingen
,
Jj. Cassiman
,
Jaak Jaeken
American journal of human genetics
1998
Carbohydrate-deficient-glycoprotein syndrome type 1 (CDG1; also known as "Jaeken syndrome") is an autosomal recessive disorder…
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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)
Gert Matthijs
,
Els Schollen
,
+4 authors
Emile van Schaftingen
Nature Genetics
1997
Carbohydrate-deficient glycoprotein syndrome type 1 (CDG1 or Jaeken syndrome) is the prototype of a class of genetic multisystem…
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1997
1997
PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13.
Gert Matthijs
,
Els Schollen
,
Michel Pirard
,
Marcia L. Budarf
,
Emile van Schaftingen
,
Jj. Cassiman
Genomics
1997
We have cloned the human homologue of SEC53 or yeast phosphomannomutase (HGMW-approved symbol PMM1) from a liver cDNA library…
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1996
1996
Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1).
Gert Matthijs
,
Eric Legius
,
+7 authors
Jj. Cassiman
Genomics
1996
We have analyzed a series of polymorphic markers on chromosome 16p13 in 17 families with carbohydrate-deficient glycoprotein…
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