RCMI Coordinating Center (RCMI CC)
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History (10)
Sarcoptes scabiei
Transketolase is upregulated in metastatic peritoneal implants and promotes ovarian cancer cell proliferation.
Glutathione depletion in hippocampal cells increases levels of H and L ferritin and glutathione S-transferase mRNAs.
Increased autophagic degradation of mitochondria in Alzheimer disease.
Overdiagnosis of open-angle glaucoma in the general population: the Thessaloniki Eye Study.
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Quintana, Anita
One or more keywords matched the following items that are connected to
Quintana, Anita
Item Type
Name
Concept
Mutation
Concept
Mutation, Missense
Academic Article
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
Academic Article
Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression.
Academic Article
Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
Academic Article
Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.
Academic Article
Mutations in the zebrafish hmgcs1 gene reveal a novel function for isoprenoids during red blood cell development.
Academic Article
Abnormal expression of GABAA receptor subunits and hypomotility upon loss of gabra1 in zebrafish.
Grant
Mutations in HCFC1 alter neural precursor differentiation
Academic Article
Activation of WNT signaling restores the facial deficits in a zebrafish with defects in cholesterol metabolism.
Grant
MMACHC Regulates Craniofacial Development
Academic Article
Missense and nonsense mutations of the zebrafish hcfc1a gene result in contrasting mTor and radial glial phenotypes.
Academic Article
Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant.
Search Criteria
Mutation