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Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities

Molecular Case Studies(2020)10.1101/mcs.a005652Source: DataRank Database

Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities is a research paper published in Molecular Case Studies (2020). On theSindex it has a DataRank of 0. It has been cited 10 times.

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Open Access10 citations

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Enrichment:Funding (2 grants)OA: goldTopics (84)Linked Datasets (4)DataCite Reuse (4)IDs (PubMed, PMC, OpenAlex)Annotations (1)SDGs (2)

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Authors (13)

Sarah B. Pierce ORCID,Christina Canavati ORCID,Amal Abu Rayyan ORCID,Tamara Jaraysa,Orit Lobel

Live enrichment

PubMed:33028645 PMC:PMC7552932 OpenAlex:https://openalex.org/W3092376053

NCI NIH HHS

Grant: R35 CA197458

National Institutes of Health

Grant: 5R35CA197458-05

GENOMIC ANALYSIS OF INHERITED BREAST AND OVARIAN CANCER

goldLicense: cc-by-nc

journalhttp://molecularcasestudies.cshlp.org/content/6/5/a005652.full.pdf

publisherhttp://molecularcasestudies.cshlp.org/content/6/5/a005652.full.pdf

publisherhttps://syndication.highwire.org/content/doi/10.1101/mcs.a005652

journalhttps://doi.org/10.1101/mcs.a005652

repositoryhttps://pubmed.ncbi.nlm.nih.gov/33028645

Fields of Study

DNA Repair MechanismsGenetic factors in colorectal cancerBRCA gene mutations in cancer0301 basic medicine03 medical and health sciences0303 health sciencesAllelesAnus, ImperforateChild, PreschoolDNA HelicasesDNA-Binding ProteinsFamilyFanconi AnemiaFanconi Anemia Complementation Group ProteinsFemaleGenetic Predisposition to DiseaseHumansMaleMicrocephalyMutation, MissensePedigreePhenotypeRNA Helicases

MeSH Terms

AllelesAnus, ImperforateChild, PreschoolDNA HelicasesDNA-Binding ProteinsFamilyFanconi AnemiaFemaleHumansMaleMicrocephalyPedigreePhenotypeGenetic Predisposition to DiseaseMutation, MissenseRNA HelicasesFanconi Anemia Complementation Group Proteins

Keywords

Fanconi anemiaMissense mutationMicrocephalyGeneticsBiologyCompound heterozygosityLoss of heterozygosityMutationCancer researchDNA repairGeneAlleleSmall for gestational ageAnal AtresiaAplasia/hypoplasia Involving Bones Of The Upper LimbsHand PolydactylyMaleGENESMutation, MissensePROTEINBACH1Anus, ImperforateMedicine and Health SciencesHumansFamilyGenetic Predisposition to DiseaseAllelesREPAIRRISKDNA HelicasesGeneral MedicineASSOCIATIONBRCA1OVARIANCOMPLEMENTATION GROUPFanconi Anemia Complementation Group ProteinsPedigreeDNA-Binding ProteinsPhenotypeBIALLELIC MUTATIONSChild, PreschoolFemaleRNA HelicasesResearch Article

Sustainable Development Goals

SDG 3: 3. Good healthSDG 0: Good health and well-being

Additional file 2 of Using multi-scale genomics to associate poorly annotated genes with rare diseases

10.6084/m9.figshare.24946688.v1figshare

Additional file 2 of Using multi-scale genomics to associate poorly annotated genes with rare diseases

10.6084/m9.figshare.24946688figshare

Additional file 1 of Using multi-scale genomics to associate poorly annotated genes with rare diseases

10.6084/m9.figshare.24946474.v1figshare

Additional file 1 of Using multi-scale genomics to associate poorly annotated genes with rare diseases

10.6084/m9.figshare.24946474figshare