2025
Decreased T helper 1 cell function underlies recurrent sinopulmonary infections in the 17q12 deletion syndrome
Shin J, Shin H, Gutierrez A, Yoo N, Par-Young J, Osmani L, Shin M, Sanchez-Lara P, Bucala R, Soffer G, Kang I. Decreased T helper 1 cell function underlies recurrent sinopulmonary infections in the 17q12 deletion syndrome. EBioMedicine 2025, 112: 105578. PMID: 39891996, PMCID: PMC11840234, DOI: 10.1016/j.ebiom.2025.105578.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultChildChild, PreschoolChromosome DeletionChromosomes, Human, Pair 17CytokinesFemaleHumansMaleRespiratory Tract InfectionsT-Box Domain ProteinsTh1 CellsYoung AdultConceptsCD4<sup>+</sup> T cellsRecurrent sinopulmonary infectionsT cell functionRNA-seq analysisT cellsHealthy controlsSinopulmonary infectionsRNA-seqT-betIFN-gFrequency of CD4<sup>+</sup> T cellsCD4<sup>+</sup> T cell functionTh1 transcription factor T-betDeletion syndromeFlow cytometryCompared to age-matched healthy controlsTranscription factor T-betDecreased T-betUrinary tract abnormalitiesAge-matched healthy controlsMultiplex assayDownstream effector cytokinesEffector cytokinesRecurrent infectionsTh17 cytokines
2020
A complex karyotype and a genetic mutation in acute myeloid leukaemia
Bewersdorf JP, Siddon A, DiAdamo A, Zeidan AM. A complex karyotype and a genetic mutation in acute myeloid leukaemia. The Lancet 2020, 396: 2018. PMID: 33341145, DOI: 10.1016/s0140-6736(20)32543-5.Peer-Reviewed Original ResearchGenetic analyses identify GSDMB associated with asthma severity, exacerbations, and antiviral pathways
Li X, Christenson SA, Modena B, Li H, Busse WW, Castro M, Denlinger LC, Erzurum SC, Fahy JV, Gaston B, Hastie AT, Israel E, Jarjour NN, Levy BD, Moore WC, Woodruff PG, Kaminski N, Wenzel SE, Bleecker ER, Meyers DA, Program N. Genetic analyses identify GSDMB associated with asthma severity, exacerbations, and antiviral pathways. Journal Of Allergy And Clinical Immunology 2020, 147: 894-909. PMID: 32795586, PMCID: PMC7876167, DOI: 10.1016/j.jaci.2020.07.030.Peer-Reviewed Original ResearchConceptsExpression quantitative trait loci (eQTL) analysisQuantitative trait locus (QTL) analysisSingle nucleotide polymorphismsGasdermin BMultiple single nucleotide polymorphismsFunctional genesExpression levelsLocus analysisAntiviral pathwaysGenes/single-nucleotide polymorphismsWhole genome sequencesGene expression dataEpithelial cellsImmune system pathwaysHigh expression levelsHuman bronchial epithelial cellsIFN regulatory factorGPI attachmentGSDMB expressionAsthma susceptibilityGenetic analysisGene expressionPathway analysisBronchial epithelial cellsRegulatory factorsDecreased sphingolipid synthesis in children with 17q21 asthma–risk genotypes
Ono JG, Kim BI, Zhao Y, Christos PJ, Tesfaigzi Y, Worgall TS, Worgall S. Decreased sphingolipid synthesis in children with 17q21 asthma–risk genotypes. Journal Of Clinical Investigation 2020, 130: 921-926. PMID: 31929190, PMCID: PMC6994114, DOI: 10.1172/jci130860.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAsthmaCase-Control StudiesChildChild, PreschoolChromosomes, Human, Pair 17FemaleGenetic Diseases, InbornHumansMaleMembrane ProteinsRisk FactorsSphingolipidsConceptsSphingolipid de novo synthesisNonallergic asthmaPeripheral blood cellsDe novo synthesisAirway hyperreactivityAllergic asthmaHuman asthmaAsthma pathogenesisChildhood asthmaAsthma riskAsthmaORMDL3 expressionAsthma susceptibilityBlood cellsNovo synthesisSphingolipid synthesisFuture therapeuticsDe novo sphingolipid synthesisChildrenORMDL3 overexpressionRiskDihydroceramideCeramideGenotypesHyperreactivity
2018
17p12 Influences Hematoma Volume and Outcome in Spontaneous Intracerebral Hemorrhage
Marini S, Devan WJ, Radmanesh F, Miyares L, Poterba T, Hansen BM, Norrving B, Jimenez-Conde J, Giralt-Steinhauer E, Elosua R, Cuadrado-Godia E, Soriano C, Roquer J, Kourkoulis CE, Ayres AM, Schwab K, Tirschwell DL, Selim M, Brown DL, Silliman SL, Worrall BB, Meschia JF, Kidwell CS, Montaner J, Fernandez-Cadenas I, Delgado P, Greenberg SM, Lindgren A, Matouk C, Sheth KN, Woo D, Anderson CD, Rosand J, Falcone GJ. 17p12 Influences Hematoma Volume and Outcome in Spontaneous Intracerebral Hemorrhage. Stroke 2018, 49: 1618-1625. PMID: 29915124, PMCID: PMC6085089, DOI: 10.1161/strokeaha.117.020091.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overCerebral HemorrhageChromosomes, Human, Pair 17FemaleGenome-Wide Association StudyGenotypeHematomaHumansMaleMiddle AgedPolymorphism, Single NucleotideConceptsAssociation studiesGenome-wide association studiesNumerous copy number variantsSusceptibility risk lociWide association studyNovel biological pathwaysGenomic regionsIntergenic regionCopy number variantsRisk lociBiological pathwaysSusceptibility lociAssociation testingGenetic variantsNumber variantsEuropean ancestryLociReplicationDiscovery phaseVariantsAncestryImportant determinantPathwayTranslational studiesQuality controlGWAS in childhood acute lymphoblastic leukemia reveals novel genetic associations at chromosomes 17q12 and 8q24.21
Wiemels JL, Walsh KM, de Smith AJ, Metayer C, Gonseth S, Hansen HM, Francis SS, Ojha J, Smirnov I, Barcellos L, Xiao X, Morimoto L, McKean-Cowdin R, Wang R, Yu H, Hoh J, DeWan AT, Ma X. GWAS in childhood acute lymphoblastic leukemia reveals novel genetic associations at chromosomes 17q12 and 8q24.21. Nature Communications 2018, 9: 286. PMID: 29348612, PMCID: PMC5773513, DOI: 10.1038/s41467-017-02596-9.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentCaliforniaChild, PreschoolChromosomes, Human, Pair 17Chromosomes, Human, Pair 8FemaleGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyHispanic or LatinoHumansInfantInfant, NewbornMalePolymorphism, Single NucleotidePrecursor Cell Lymphoblastic Leukemia-LymphomaRisk FactorsConceptsNew risk lociRisk lociGenome-wide association studiesGrowth regulation pathwaysGenetic associationAcute lymphoblastic leukemiaNovel genetic associationsChildhood acute lymphoblastic leukemiaGenetic Epidemiology ResearchTranscription factorsStrong genetic associationGene expressionAssociation studiesLymphocyte developmentMYC oncogeneChromosome 17q12Oncology GroupLymphoblastic leukemiaLociChildren's Oncology GroupCalifornia Childhood Leukemia StudyChildhood Leukemia StudyStructural contactsYear of birthNon-Latino whites
2016
Downregulation of ST6GALNAC1 is associated with esophageal squamous cell carcinoma development
Iwaya T, Sawada G, Amano S, Kume K, Ito C, Endo F, Konosu M, Shioi Y, Akiyama Y, Takahara T, Otsuka K, Nitta H, Koeda K, Mizuno M, Nishizuka S, Sasaki A, Mimori K. Downregulation of ST6GALNAC1 is associated with esophageal squamous cell carcinoma development. International Journal Of Oncology 2016, 50: 441-447. PMID: 28035351, DOI: 10.3892/ijo.2016.3817.Peer-Reviewed Original ResearchMeSH KeywordsAgedCarcinogenesisCarcinoma, Squamous CellChromosomes, Human, Pair 17Down-RegulationEsophageal NeoplasmsEsophageal Squamous Cell CarcinomaFemaleGene Expression ProfilingGene Expression Regulation, NeoplasticHumansLoss of HeterozygosityMaleReal-Time Polymerase Chain ReactionSialyltransferasesTranscriptomeConceptsQuantitative real-time reverse transcription PCRSporadic esophageal squamous cell carcinomasResponsible geneRNA sequence analysisClinical ESCC samplesPutative tumor suppressor geneCell linesTumor suppressor geneChromosome 17q25.1Esophageal squamous cell carcinoma (ESCC) developmentReal-time reverse transcription PCREsophageal squamous cell carcinomaMultiple genesCandidate genesExpression patternsChromosome 17q25Reverse transcription-PCRSequence analysisSuppressor geneGenesMethylation analysisCorresponding normal tissuesST6GALNAC1Transcription-PCRESCC developmentMICRODUPLICATION OF 17p[DUP(17)(12p11.2)]: REPORT OF A NEONATE WITH A SPINA BIFIDA AND CARDIAC ANOMALIES AND A LITERATURE REVIEW.
Puvabanditsin S, Gueye-Ndiaye S, Puthenpura V, Gengel N, Tam V, Mehta R. MICRODUPLICATION OF 17p[DUP(17)(12p11.2)]: REPORT OF A NEONATE WITH A SPINA BIFIDA AND CARDIAC ANOMALIES AND A LITERATURE REVIEW. Genetic Counseling 2016, 27: 503-507. PMID: 30226970.Peer-Reviewed Original Research
2015
Mechanisms for the Generation of Two Quadruplications Associated with Split‐Hand Malformation
Gu S, Posey JE, Yuan B, Carvalho CM, Luk HM, Erikson K, Lo IF, Leung GK, Pickering CR, Chung BH, Lupski JR. Mechanisms for the Generation of Two Quadruplications Associated with Split‐Hand Malformation. Human Mutation 2015, 37: 160-164. PMID: 26549411, PMCID: PMC4718869, DOI: 10.1002/humu.22929.Peer-Reviewed Original ResearchMeSH Keywords14-3-3 ProteinsAdultAgedAlu ElementsBase SequenceBasic Helix-Loop-Helix Transcription FactorsChromosome DuplicationChromosomes, Human, Pair 17DNA Copy Number VariationsFemaleGenetic LociGenome, HumanHand Deformities, CongenitalHumansInfantMaleMolecular Sequence DataPedigreeSequence AlignmentSequence Analysis, DNACommon variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer
Childs EJ, Mocci E, Campa D, Bracci PM, Gallinger S, Goggins M, Li D, Neale RE, Olson SH, Scelo G, Amundadottir LT, Bamlet WR, Bijlsma MF, Blackford A, Borges M, Brennan P, Brenner H, Bueno-de-Mesquita HB, Canzian F, Capurso G, Cavestro GM, Chaffee KG, Chanock SJ, Cleary SP, Cotterchio M, Foretova L, Fuchs C, Funel N, Gazouli M, Hassan M, Herman JM, Holcatova I, Holly EA, Hoover RN, Hung RJ, Janout V, Key TJ, Kupcinskas J, Kurtz RC, Landi S, Lu L, Malecka-Panas E, Mambrini A, Mohelnikova-Duchonova B, Neoptolemos JP, Oberg AL, Orlow I, Pasquali C, Pezzilli R, Rizzato C, Saldia A, Scarpa A, Stolzenberg-Solomon RZ, Strobel O, Tavano F, Vashist YK, Vodicka P, Wolpin BM, Yu H, Petersen GM, Risch HA, Klein AP. Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer. Nature Genetics 2015, 47: 911-916. PMID: 26098869, PMCID: PMC4520746, DOI: 10.1038/ng.3341.Peer-Reviewed Original ResearchMeSH KeywordsAgedAustraliaChromosomes, Human, Pair 17Chromosomes, Human, Pair 2Chromosomes, Human, Pair 3Chromosomes, Human, Pair 7EuropeFemaleGene FrequencyGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMaleMiddle AgedNorth AmericaPancreatic NeoplasmsPolymorphism, Single NucleotideRisk Factors
2014
A genomic copy number variant analysis implicates the MBD5 and HNRNPUgenes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion
Du X, An Y, Yu L, Liu R, Qin Y, Guo X, Sun D, Zhou S, Wu B, Jiang YH, Wang Y. A genomic copy number variant analysis implicates the MBD5 and HNRNPUgenes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion. BMC Medical Genomics 2014, 15: 62. PMID: 24885232, PMCID: PMC4061518, DOI: 10.1186/1471-2350-15-62.Peer-Reviewed Original ResearchMeSH Keywords1-Alkyl-2-acetylglycerophosphocholine EsteraseAge of OnsetBrainChild, PreschoolChromosome DeletionChromosomes, Human, Pair 1Chromosomes, Human, Pair 17Chromosomes, Human, Pair 2DNA Copy Number VariationsDNA-Binding ProteinsFaciesFemaleFoot Deformities, CongenitalHand Deformities, CongenitalHeterogeneous-Nuclear RibonucleoproteinsHumansInfantInfant, NewbornMagnetic Resonance ImagingMaleMicrotubule-Associated ProteinsPhenotypeSpasms, InfantileConceptsInfantile spasmsEpileptic encephalopathyChinese childrenCNV lossDistinct clinical presentationsCopy number variantsPathogenicity of CNVsAutism spectrum disorderCausative genesMajority of casesWhole-exome sequencingRole of CNVsGeneralized seizuresClinical featuresClinical presentationClinical spectrumPrimary diagnosisSevere developmental disabilitiesSpasmConclusionOur findingsMBD5 geneReal-time qPCRExome sequencingGenetic factorsDifferent ethnic backgrounds
2013
Chromosome 17 polysomy: correlation with histological parameters and HER2NEU gene amplification
Orsaria M, Khelifa S, Buza N, Kamath A, Hui P. Chromosome 17 polysomy: correlation with histological parameters and HER2NEU gene amplification. Journal Of Clinical Pathology 2013, 66: 1070. PMID: 23908451, DOI: 10.1136/jclinpath-2013-201506.Peer-Reviewed Original ResearchConceptsInvasive breast carcinomaHER2 protein overexpressionPolysomy 17Breast carcinomaHistological parametersPoor Nottingham Prognostic IndexGene amplificationPrimary invasive breast carcinomasLocal tumor extentProgesterone receptor negativityNottingham Prognostic IndexHigh histological gradeProtein overexpressionHigh nuclear gradeCEP17 copy numberChromosome 17 polysomyReceptor negativity17q25 Locus Is Associated With White Matter Hyperintensity Volume in Ischemic Stroke, But Not With Lacunar Stroke Status
Adib-Samii P, Rost N, Traylor M, Devan W, Biffi A, Lanfranconi S, Fitzpatrick K, Bevan S, Kanakis A, Valant V, Gschwendtner A, Malik R, Richie A, Gamble D, Segal H, Parati EA, Ciusani E, Holliday EG, Maguire J, Wardlaw J, Worrall B, Bis J, Wiggins KL, Longstreth W, Kittner SJ, Cheng YC, Mosley T, Falcone GJ, Furie KL, Leiva-Salinas C, Lau BC, Saleem Khan M, Sharma P, Fornage M, Mitchell B, Psaty B, Sudlow C, Levi C, Boncoraglio G, Rothwell P, Meschia J, Dichgans M, Rosand J, Markus H. 17q25 Locus Is Associated With White Matter Hyperintensity Volume in Ischemic Stroke, But Not With Lacunar Stroke Status. Stroke 2013, 44: 1609-1615. PMID: 23674528, PMCID: PMC3771337, DOI: 10.1161/strokeaha.113.679936.Peer-Reviewed Original ResearchIdentification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31
Permuth-Wey J, Lawrenson K, Shen HC, Velkova A, Tyrer JP, Chen Z, Lin HY, Ann Chen Y, Tsai YY, Qu X, Ramus SJ, Karevan R, Lee J, Lee N, Larson MC, Aben KK, Anton-Culver H, Antonenkova N, Antoniou AC, Armasu SM, Bacot F, Baglietto L, Bandera E, Barnholtz-Sloan J, Beckmann M, Birrer M, Bloom G, Bogdanova N, Brinton L, Brooks-Wilson A, Brown R, Butzow R, Cai Q, Campbell I, Chang-Claude J, Chanock S, Chenevix-Trench G, Cheng J, Cicek M, Coetzee G, Cook L, Couch F, Cramer D, Cunningham J, Dansonka-Mieszkowska A, Despierre E, Doherty J, Dörk T, du Bois A, Dürst M, Easton D, Eccles D, Edwards R, Ekici A, Fasching P, Fenstermacher D, Flanagan J, Garcia-Closas M, Gentry-Maharaj A, Giles G, Glasspool R, Gonzalez-Bosquet J, Goodman M, Gore M, Górski B, Gronwald J, Hall P, Halle M, Harter P, Heitz F, Hillemanns P, Hoatlin M, Høgdall C, Høgdall E, Hosono S, Jakubowska A, Jensen A, Jim H, Kalli K, Karlan B, Kaye S, Kelemen L, Kiemeney L, Kikkawa F, Konecny G, Krakstad C, Krüger Kjaer S, Kupryjanczyk J, Lambrechts D, Lambrechts S, Lancaster J, Le N, Leminen A, Levine D, Liang D, Kiong Lim B, Lin J, Lissowska J, Lu K, Lubiński J, Lurie G, Massuger L, Matsuo K, McGuire V, McLaughlin J, Menon U, Modugno F, Moysich K, Nakanishi T, Narod S, Nedergaard L, Ness R, Nevanlinna H, Nickels S, Noushmehr H, Odunsi K, Olson S, Orlow I, Paul J, Pearce C, Pejovic T, Pelttari L, Pike M, Poole E, Raska P, Renner S, Risch H, Rodriguez-Rodriguez L, Anne Rossing M, Rudolph A, Runnebaum I, Rzepecka I, Salvesen H, Schwaab I, Severi G, Shridhar V, Shu X, Shvetsov Y, Sieh W, Song H, Southey M, Spiewankiewicz B, Stram D, Sutphen R, Teo S, Terry K, Tessier D, Thompson P, Tworoger S, van Altena A, Vergote I, Vierkant R, Vincent D, Vitonis A, Wang-Gohrke S, Palmieri Weber R, Wentzensen N, Whittemore A, Wik E, Wilkens L, Winterhoff B, Ling Woo Y, Wu A, Xiang Y, Yang H, Zheng W, Ziogas A, Zulkifli F, Phelan C, Iversen E, Schildkraut J, Berchuck A, Fridley B, Goode E, Pharoah P, Monteiro A, Sellers T, Gayther S. Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31. Nature Communications 2013, 4: 1627. PMID: 23535648, PMCID: PMC3709460, DOI: 10.1038/ncomms2613.Peer-Reviewed Original ResearchMeSH KeywordsCarcinoma, Ovarian EpithelialChromosomes, Human, Pair 17FemaleGenetic Predisposition to DiseaseHumansNeoplasms, Glandular and EpithelialOvarian NeoplasmsPolymorphism, Single NucleotideConceptsOvarian cancer susceptibility lociMiRNA-related single nucleotide polymorphismsEOC susceptibilityIntegrated molecular analysisCommon susceptibility variantsCancer susceptibility lociEOC susceptibility genesCollaborative Oncological Gene-environment StudyInversion polymorphismSingle nucleotide polymorphismsUntranslated regionHeritable componentMolecular characterizationSusceptibility lociAdditional genotypingFunctional targetSusceptibility variantsSusceptibility genesMolecular analysisStrong signalGene-environment studiesPolymorphismARHGAP27PLEKHM1MiRSNPs
2012
Structural diversity and African origin of the 17q21.31 inversion polymorphism
Steinberg KM, Antonacci F, Sudmant PH, Kidd JM, Campbell CD, Vives L, Malig M, Scheinfeldt L, Beggs W, Ibrahim M, Lema G, Nyambo TB, Omar SA, Bodo JM, Froment A, Donnelly MP, Kidd KK, Tishkoff SA, Eichler EE. Structural diversity and African origin of the 17q21.31 inversion polymorphism. Nature Genetics 2012, 44: 872-880. PMID: 22751100, PMCID: PMC3408829, DOI: 10.1038/ng.2335.Peer-Reviewed Original Research
2011
Searching for Potocki–Lupski syndrome phenotype: A patient with language impairment and no autism
Ercan-Sencicek A, Wright N, Frost SJ, Fulbright RK, Felsenfeld S, Hart L, Landi N, Mencl W, Sanders SJ, Pugh KR, State MW, Grigorenko EL. Searching for Potocki–Lupski syndrome phenotype: A patient with language impairment and no autism. Brain And Development 2011, 34: 700-703. PMID: 22178197, PMCID: PMC3343226, DOI: 10.1016/j.braindev.2011.11.003.Peer-Reviewed Case Reports and Technical NotesMeSH KeywordsAbnormalities, MultipleAutistic DisorderChildChromosome DisordersChromosome DuplicationChromosomes, Human, Pair 17HumansLanguage DisordersMalePhenotypeSmith-Magenis SyndromeA de novo 3.54 Mb deletion of 17q22‐q23.1 associated with hydrocephalus: A case report and review of literature
Khattab M, Xu F, Li P, Bhandari V. A de novo 3.54 Mb deletion of 17q22‐q23.1 associated with hydrocephalus: A case report and review of literature. American Journal Of Medical Genetics Part A 2011, 155: 3082-3086. PMID: 22052796, DOI: 10.1002/ajmg.a.34307.Peer-Reviewed Original ResearchHomozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred
Gulsuner S, Tekinay AB, Doerschner K, Boyaci H, Bilguvar K, Unal H, Ors A, Onat OE, Atalar E, Basak AN, Topaloglu H, Kansu T, Tan M, Tan U, Gunel M, Ozcelik T. Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. Genome Research 2011, 21: 1995-2003. PMID: 21885617, PMCID: PMC3227090, DOI: 10.1101/gr.126110.111.Peer-Reviewed Original ResearchMeSH KeywordsAdultCerebellumChromosomes, Human, Pair 17FemaleGaitGenetic Diseases, InbornGenetic LociHomozygoteHumansMagnetic Resonance ImagingMalePostureRadiographyTurkeyConceptsBeta-propeller domainPrivate missense mutationsLarge consanguineous familyThird geneBEACH domainTransmembrane proteinHomozygous regionsHomozygosity mappingGenomic sequencingWDR81Chromosome 17p13.1Missense mutationsQuadrupedal locomotionConsanguineous familyTargeted sequencingGenesSequencingRare phenotypeMorphological abnormalitiesBiological basisMutationsAffected individualsCell layerParticular atrophyFamilyCorrelation of Immunohistochemical Expression of p53 With Unamplified Chromosome 17 Polysomy in Invasive Breast Carcinoma
Krishnamurti U, Zarineh A, Atem F, Silverman J. Correlation of Immunohistochemical Expression of p53 With Unamplified Chromosome 17 Polysomy in Invasive Breast Carcinoma. Applied Immunohistochemistry & Molecular Morphology 2011, 19: 28-32. PMID: 20823770, DOI: 10.1097/pai.0b013e3181e9bb6f.Peer-Reviewed Original ResearchConceptsInvasive breast carcinomaChromosome 17 polysomyBreast carcinomaHER2 amplificationReceptor negativityPrognostic indicatorNottingham scoreBreast cancerNeck squamous cell carcinomaNonsmall cell lung carcinomaHormone receptor negativityAdverse prognostic indicatorEstrogen receptor negativitySquamous cell carcinomaIndependent prognostic indicatorCell lung carcinomaCell carcinomaP53 positivityBladder carcinomaP53 immunostainingP53 overexpressionImmunohistochemical expressionLung carcinomaCarcinomaP53 expression
2010
Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10
Choate KA, Lu Y, Zhou J, Choi M, Elias PM, Farhi A, Nelson-Williams C, Crumrine D, Williams ML, Nopper AJ, Bree A, Milstone LM, Lifton RP. Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10. Science 2010, 330: 94-97. PMID: 20798280, PMCID: PMC3085938, DOI: 10.1126/science.1192280.Peer-Reviewed Original ResearchAmino Acid SequenceCell NucleolusChromosome MappingChromosomes, Human, Pair 17FemaleFrameshift MutationHumansIchthyosiform Erythroderma, CongenitalIntermediate FilamentsKeratin-10KeratinsLoss of HeterozygosityMaleMitosisMolecular Sequence DataMosaicismMutant ProteinsRecombination, GeneticSelection, GeneticSkin
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