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- Cranio–lenticulo–sutural_dysplasia abstract "Cranio–lenticulo–sutural dysplasia (CLSD, or Boyadjiev-Jabs syndrome) is a neonatal/infancy disease caused by a disorder in the 14th chromosome. It is an autosomal recessive disorder, meaning that both recessive genes must be inherited from each parent in order for the disease to manifest itself. The disease causes a significant dilation of the endoplasmic reticulum in fibroblasts of the host with CLSD. Due to the distension of the endoplasmic reticulum, export of proteins (such as collagen) from the cell is disrupted.The production of SEC23A protein is involved in the pathway of exporting collagen (the COPII pathway), but a missense mutation causes and underproduction of SEC23A which inhibits the pathway, affecting collagen secretion. This decrease in collagen secretion can lead to the bone defects that are also characteristic of the disease, such as skeletal dysplasia and under-ossification. Decreased collagen in CLSD-affected individuals contributes to improper bone formation, because collagen is a major protein in the extracellular matrix and contributes to its proper mineralization in bones. It has also been hypothesized that there are other defects in the genetic code besides SEC23A that contribute to the disorder.".
- Cranio–lenticulo–sutural_dysplasia meshId "C564332".
- Cranio–lenticulo–sutural_dysplasia omim "607812".
- Cranio–lenticulo–sutural_dysplasia thumbnail Protein_SEC23A_PDB_2nup.png?width=300.
- Cranio–lenticulo–sutural_dysplasia wikiPageExternalLink sec23_24.pdf.
- Cranio–lenticulo–sutural_dysplasia wikiPageID "29814293".
- Cranio–lenticulo–sutural_dysplasia wikiPageLength "11000".
- Cranio–lenticulo–sutural_dysplasia wikiPageOutDegree "62".
- Cranio–lenticulo–sutural_dysplasia wikiPageRevisionID "704638313".
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Amino_acid.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Bedouin.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink COPII.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Capillary_hemangioma.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Cartilage.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Cataract.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Category:Rare_diseases.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Category:Syndromes.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Cell_(biology).
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Chromosome.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Chromosome_14_(human).
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Collagen.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink DNA.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Dominance_(genetics).
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Dysplasia.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Embryo.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Embryogenesis.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Endoplasmic_reticulum.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Extracellular_matrix.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Fibroblast.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Flat_feet.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Fontanelle.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Genetic_code.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Genetics.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Golgi_apparatus.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Guanosine_triphosphate.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Hyperpigmentation.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Hypertelorism.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Infant.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Leucine.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Mineralization.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Missense_mutation.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Mutation.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Ossification.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Palate.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Phenotype.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Phenylalanine.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Prognosis.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink RNA.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Ribosome.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink SAR1A.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink SEC23A.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink SNARE_(protein).
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Saudi_Arabia.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Scapulocoracoid.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Scoliosis.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Symptom.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Transcription_(genetics).
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Translation.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Uterus.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Vesicle_(biology_and_chemistry).
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink Zebrafish.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink File:Chromosome_14.jpeg.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLink File:Protein_SEC23A_PDB_2nup.png.
- Cranio–lenticulo–sutural_dysplasia wikiPageWikiLinkText "Cranio–lenticulo–sutural dysplasia".
- Cranio–lenticulo–sutural_dysplasia meshid "564332.0".
- Cranio–lenticulo–sutural_dysplasia name "Cranio–lenticulo–sutural dysplasia".
- Cranio–lenticulo–sutural_dysplasia omim "607812".
- Cranio–lenticulo–sutural_dysplasia wikiPageUsesTemplate Template:Col-2.
- Cranio–lenticulo–sutural_dysplasia wikiPageUsesTemplate Template:Col-begin.
- Cranio–lenticulo–sutural_dysplasia wikiPageUsesTemplate Template:Col-end.
- Cranio–lenticulo–sutural_dysplasia wikiPageUsesTemplate Template:Infobox_disease.
- Cranio–lenticulo–sutural_dysplasia wikiPageUsesTemplate Template:Inherited_disorders_of_trafficking.
- Cranio–lenticulo–sutural_dysplasia wikiPageUsesTemplate Template:Reflist.
- Cranio–lenticulo–sutural_dysplasia subject Category:Autosomal_recessive_disorders.
- Cranio–lenticulo–sutural_dysplasia subject Category:Rare_diseases.
- Cranio–lenticulo–sutural_dysplasia subject Category:Syndromes.
- Cranio–lenticulo–sutural_dysplasia hypernym Disease.
- Cranio–lenticulo–sutural_dysplasia type Disease.
- Cranio–lenticulo–sutural_dysplasia type Disorder.
- Cranio–lenticulo–sutural_dysplasia type Redirect.
- Cranio–lenticulo–sutural_dysplasia type Syndrome.
- Cranio–lenticulo–sutural_dysplasia type Thing.
- Cranio–lenticulo–sutural_dysplasia type Q12136.
- Cranio–lenticulo–sutural_dysplasia comment "Cranio–lenticulo–sutural dysplasia (CLSD, or Boyadjiev-Jabs syndrome) is a neonatal/infancy disease caused by a disorder in the 14th chromosome. It is an autosomal recessive disorder, meaning that both recessive genes must be inherited from each parent in order for the disease to manifest itself. The disease causes a significant dilation of the endoplasmic reticulum in fibroblasts of the host with CLSD.".
- Cranio–lenticulo–sutural_dysplasia label "Cranio–lenticulo–sutural dysplasia".
- Cranio–lenticulo–sutural_dysplasia sameAs Q5182157.
- Cranio–lenticulo–sutural_dysplasia sameAs m.0g569_8.
- Cranio–lenticulo–sutural_dysplasia sameAs Q5182157.
- Cranio–lenticulo–sutural_dysplasia wasDerivedFrom Cranio–lenticulo–sutural_dysplasia?oldid=704638313.
- Cranio–lenticulo–sutural_dysplasia depiction Protein_SEC23A_PDB_2nup.png.
- Cranio–lenticulo–sutural_dysplasia isPrimaryTopicOf Cranio–lenticulo–sutural_dysplasia.
- Cranio–lenticulo–sutural_dysplasia name "Cranio–lenticulo–sutural dysplasia".