2023
A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia
Kayser M, Jain P, Bale A, Carpenter T. A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia. JCEM Case Reports 2023, 1: luad082. PMID: 37908207, PMCID: PMC10586592, DOI: 10.1210/jcemcr/luad082.Peer-Reviewed Original ResearchSkewed X-inactivationFibroblast growth factor 23Growth factor 23Intrauterine growth restrictionSingle nucleotide polymorphismsDiagnosis of XLHClinical featuresFactor 23Duodenal atresiaRadiographic featuresGrowth restrictionPostnatal genetic testingAndrogen receptor locusPotential treatmentGenetic testingHypophosphatemiaXLHHereditary ricketsDominant disorderPrenatal identificationCommon formHemizygous malesHeterozygous disruptionRicketsHeterozygous females
2003
The hedgehog pathway and developmental disorders
Bale A. The hedgehog pathway and developmental disorders. 2003, 258-272. DOI: 10.4324/9780203450420-14.Peer-Reviewed Original ResearchHedgehog signal transduction pathwaySignal transduction pathwaysDrosophila melanogasterDevelopmental biologistsN-terminal fragmentTransduction pathwaysActive N-terminal fragmentFruit flyTissue specificityAutocatalytic cleavageHuman diseasesWnt pathwayHedgehog pathwayDownstream membersPathwayHedgehogTwo-hit modelVariety of tumorsMutationsGermline mutationsAutosomal dominant disorderBirth defectsMelanogasterDominant disorderEmbryogenesis
1997
Molecular basis of the nevoid basal cell carcinoma syndrome
Wicking C, Bale A. Molecular basis of the nevoid basal cell carcinoma syndrome. Current Opinion In Pediatrics 1997, 9: 630-635. PMID: 9425597, DOI: 10.1097/00008480-199712000-00013.Peer-Reviewed Original ResearchConceptsWidespread developmental defectsHereditary basal cell carcinomasDrosophila genesEmbryonic patterningCell fateEmbryonic developmentHuman homologueMolecular basisDevelopmental defectsTumor suppressorCancer predispositionGenesLoss of heterozygosityCell growthChromosome 9q22.3Basal cell carcinoma syndromeNevoid basal cell carcinoma syndromeMutationsAutosomal dominant disorderBirth defectsDrosophilaDominant disorderCarcinoma syndromeOrganogenesisHomologues
1996
Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.
Chidambaram A, Goldstein AM, Gailani MR, Gerrard B, Bale SJ, DiGiovanna JJ, Bale AE, Dean M. Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. Cancer Research 1996, 56: 4599-601. PMID: 8840969.Peer-Reviewed Original ResearchConceptsNevoid basal cell carcinoma syndromeNBCCS patientsMultiple basal cell carcinomasNevoid basal cell carcinoma syndrome patientsBasal cell carcinoma syndromeMultisystem autosomal dominant disorderBasal cell carcinomaAutosomal dominant disorderOvarian fibromaCell carcinomaSuch tumorsSyndrome patientsCarcinoma syndromePlantar pitsOdontogenic keratocystsEctopic calcificationGorlin syndromeClinical phenotypeDevelopmental anomaliesSyndromePatientsDominant disorderIntrafamilial variabilityTumorsHuman homologueMolecular analysis of chromosome 9q deletions in two Gorlin syndrome patients.
Shimkets R, Gailani M, Siu V, Yang-Feng T, Pressman C, Levanat S, Goldstein A, Dean M, Bale A. Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients. American Journal Of Human Genetics 1996, 59: 417-22. PMID: 8755929, PMCID: PMC1914731.Peer-Reviewed Original ResearchConceptsGorlin syndromeGorlin syndrome patientsSyndrome patientsMultiple basal cell carcinomasConductive hearing lossBasal cell carcinomaAllelic lossCancer predisposition syndromeAutosomal dominant disorderGerm-line deletionOvarian fibromaSecond patientCell carcinomaHearing lossGroup AGroup CPatientsSyndromeDominant mutationsSignificant phenotypic variabilityGorlin syndrome geneDominant disorderNull mutationXeroderma pigmentosum group AIdentical alterationsMutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome
Hahn H, Wicking C, Zaphiropoulos P, Gailani M, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden A, Gillies S, Negus K, Smyth I, Pressman C, Leffell D, Gerrard B, Goldstein A, Dean M, Toftgard R, Chenevix-Trench G, Wainwright B, Bale A. Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome. Cell 1996, 85: 841-851. PMID: 8681379, DOI: 10.1016/s0092-8674(00)81268-4.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAnimalsBasal Cell Nevus SyndromeBase SequenceChromosome MappingChromosomes, Human, Pair 9Cloning, MolecularDNA, ComplementaryDrosophilaDrosophila ProteinsExonsFemaleGene DeletionGene ExpressionGenes, Tumor SuppressorHumansIn Vitro TechniquesInsect HormonesIntronsMembrane ProteinsMolecular Sequence DataMutationPedigreeReceptors, Cell SurfaceSequence Homology, Nucleic AcidConceptsDrosophila segment polarity geneSegment polarity genesCertain cell typesDevelopmental abnormalitiesPolarity genesHuman homologStrong homologySporadic basal cell carcinomasHuman sequenceCosmid contigTumor suppressorLoss of heterozygosityCell typesGenesPatched geneChromosome 9q22.3Complete lossFunction contributesNevoid basal cell carcinoma syndromeMutation analysisBasal cell carcinoma syndromeAutosomal dominant disorderNBCCS patientsDrosophilaDominant disorder
1994
Nevoid basal cell carcinoma syndrome.
Bale A, Gailani M, Leffell D. Nevoid basal cell carcinoma syndrome. Journal Of Investigative Dermatology 1994, 103: 126s-130s. PMID: 7963674, DOI: 10.1111/1523-1747.ep12399438.Peer-Reviewed Original ResearchConceptsOvarian fibromaCell carcinomaNevoid basal cell carcinoma syndromeBasal cell carcinoma syndromeHereditary basal cell carcinomasBasal cell carcinomaMultiple congenital anomaliesGerm-line mutationsAutosomal dominant disorderUnusual patientCongenital anomaliesCarcinoma syndromeTumor typesHereditary disorderTumor suppressor geneDominant disorderSporadic medulloblastomasAllelic loss
1992
Developmental defects in gorlin syndrome related to a putative tumor suppressor gene on chromosome 9
Gailani M, Bale S, Leffell D, DiGiovanna J, Peck G, Poliak S, Drum M, Pastakia B, McBride O, Kase R, Greene M, Mulvihill J, Bale A. Developmental defects in gorlin syndrome related to a putative tumor suppressor gene on chromosome 9. Cell 1992, 69: 111-117. PMID: 1348213, DOI: 10.1016/0092-8674(92)90122-s.Peer-Reviewed Original ResearchConceptsBasal cell carcinomaSporadic basal cell carcinomasCell carcinomaLoss of heterozygosityGorlin syndromeHereditary tumorsTumor suppressor geneHereditary basal cell carcinomasMultiple congenital anomaliesSuppressor geneAutosomal dominant disorderOvarian fibromaCongenital anomaliesCarcinomaGermline mutationsHereditary disorderPutative tumor suppressor geneDevelopmental defectsSyndromeGorlin syndrome geneDominant disorderAllelic lossGenetic linkage studiesTumorsTumor suppressor
1991
Allelic loss on chromosome 11 in hereditary and sporadic tumors related to familial multiple endocrine neoplasia type 1.
Bale A, Norton J, Wong E, Fryburg J, Maton P, Oldfield E, Streeten E, Aurbach G, Brandi M, Friedman E. Allelic loss on chromosome 11 in hereditary and sporadic tumors related to familial multiple endocrine neoplasia type 1. Cancer Research 1991, 51: 1154-7. PMID: 1671755.Peer-Reviewed Original ResearchConceptsFamilial multiple endocrine neoplasia type 1Multiple endocrine neoplasia type 1Anterior pituitary tumorsPancreatic islet tumorsIslet tumorsPituitary tumorsAllelic lossType 1Autosomal dominant disorderMalignant gastrinomaBronchial carcinoidParathyroid glandsParathyroid tumorsAnterior pituitaryLoss of heterozygosityTumorsPancreatic isletsSporadic tumorsDominant disorderMEN1 genePatientsRestriction fragment length polymorphismFragment length polymorphismHomozygous inactivationInformative restriction fragment length polymorphisms