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Rochelle Hirschhorn

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TOP 3
Rochelle Hirschhorn
In vivo reversion to normal of inherited mutations in humans.
Rochelle Hirschhorn; Maryann L Huie; JS Kasper
Computer assisted cloning of human neutral alpha-glucosidase C (GANC): a new paralog in the glycosyl hydrolase gene family 31.
Hamid Jack Moallem; Gladys Taningo; CK Jiang; Rochelle Hirschhorn; Senih Fikrig
Purine nucleoside phosphorylase deficiency: a new case report and identification of two novel mutations (Gly156A1a and Val217Ile), only one of which (Gly156A1a) is deleterious.

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All Publications

2003: Rochelle Hirschhorn
In vivo reversion to normal of inherited mutations in humans.
Journal of medical genetics 2003;40(10):721-8.
2002: Rochelle Hirschhorn; Maryann L Huie; JS Kasper
Computer assisted cloning of human neutral alpha-glucosidase C (GANC): a new paralog in the glycosyl hydrolase gene family 31.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(21):13642-6.
2002: Hamid Jack Moallem; Gladys Taningo; CK Jiang; Rochelle Hirschhorn; Senih Fikrig
Purine nucleoside phosphorylase deficiency: a new case report and identification of two novel mutations (Gly156A1a and Val217Ile), only one of which (Gly156A1a) is deleterious.
Clinical immunology (Orlando, Fla.) 2002;105(1):75-80.
2002: Maryann L Huie; Kwame Anyane-Yeboa; Edwin Guzman; Rochelle Hirschhorn
Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II.
American journal of human genetics 2002;70(4):1054-7.
2002: Roberto Fernandez-Hojas; Maryann L Huie; Carmen Navarro; Carmen Dominguez; Manuel Roig; Diana Lopez-Coronas; Susana Teijeira; Kwame Anyane-Yeboa; Rochelle Hirschhorn
Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).
Neuromuscular disorders : NMD 2002;12(2):159-66.
2001: Katheryn Meek; L Kienker; C Dallas; Wei Wang; M J Dark; Patrick J Venta; Maryann L Huie; Rochelle Hirschhorn; Thomas Bell
SCID in Jack Russell terriers: a new animal model of DNA-PKcs deficiency.
Journal of immunology (Baltimore, Md. : 1950) 2001;167(4):2142-50.
2001: Daniel F Pauly; Tom Fraites; Catalin Toma; H S Bayes; Maryann L Huie; Rochelle Hirschhorn; Paul H Plotz; Nina Raben; Paul D Kessler; Barry J Byrne
Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease.
Human gene therapy 2001;12(5):527-38.
2000: Seiichi Tsujino; Maryann L Huie; Naomi Kanazawa; H Sugie; Y Goto; M Kawai; I Nonaka; Rochelle Hirschhorn; Norio Sakuragawa
Frequent mutations in Japanese patients with acid maltase deficiency.
Neuromuscular disorders : NMD 2000;10(8):599-603.
1999: Maryann L Huie; JS Kasper; P H Arn; C R Greenberg; Rochelle Hirschhorn
Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop.
American journal of medical genetics 1999;85(1):5-8.
1999: Elvira Ponce; David P Witte; Rochelle Hirschhorn; Maryann L Huie; Gregory A Grabowski
Murine acid alpha-glucosidase: cell-specific mRNA differential expression during development and maturation.
The American journal of pathology 1999;154(4):1089-96.
1999: Nina Raben; E Lee; L Lee; Rochelle Hirschhorn; Paul H Plotz
Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online.
Human mutation 1999;13(1):83-4.
1999: Maryann L Huie; Alan L Shanske; JS Kasper; Robert W Marion; Rochelle Hirschhorn
A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease type II (GSDII).
Human genetics 1999;104(1):94-8.
1999: Rochelle Hirschhorn; Maryann L Huie
Frequency of mutations for glycogen storage disease type II in different populations: the delta525T and deltaexon 18 mutations are not generally "common" in white populations.
Journal of medical genetics 1999;36(1):85-6.
1998: J A Becker; J Vlach; Nina Raben; Kanneboyina Nagaraju; EM Adams; Monique M P Hermans; Arnold J J Reuser; S S Brooks; Cynthia J Tifft; Rochelle Hirschhorn; Maryann L Huie; Marc Nicolino; Paul H Plotz
The African origin of the common mutation in African American patients with glycogen-storage disease type II.
American journal of human genetics 1998;62(4):991-4.
1998: Maryann L Huie; Seiichi Tsujino; S Sklower Brooks; A Engel; E Elias; D T Bonthron; C Bessley; S Shanske; S DiMauro; Y I Goto; Rochelle Hirschhorn
Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.
Biochemical and biophysical research communications 1998;244(3):921-7.
1997: C Jiang; R Hong; S D Horowitz; X Kong; Rochelle Hirschhorn
An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.
Human molecular genetics 1997;6(13):2271-8.
1997: M Carmen Montesinos; P Gadangi; M Longaker; J Sung; J Levine; Diana Nilsen; Joan Reibman; M Li; CK Jiang; Rochelle Hirschhorn; P A Recht; E Ostad; Richard I Levin; Bruce N Cronstein
Wound healing is accelerated by agonists of adenosine A2 (G alpha s-linked) receptors.
The Journal of experimental medicine 1997;186(9):1615-20.
1997: Rochelle Hirschhorn; William Borkowsky; CK Jiang; D R Yang; T Jenkins
Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes.
Human genetics 1997;100(1):22-9.
1996: Maryann L Huie; M Menaker; P J McAlpine; Rochelle Hirschhorn
Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4).
Annals of human genetics 1996;60(Pt 5):365-8.
1996: Rochelle Hirschhorn; D R Yang; J M Puck; Maryann L Huie; C K Jiang; L E Kurlandsky
Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency.
Nature genetics 1996;13(3):290-5.
1995: Rochelle Hirschhorn
Adenosine deaminase deficiency: molecular basis and recent developments.
Clinical immunology and immunopathology 1995;76(3 Pt 2):S219-27.
1995: C Lozada; Richard I Levin; M Huie; Rochelle Hirschhorn; D Naime; M Whitlow; P A Recht; B Golden; Bruce N Cronstein
Identification of C1q as the heat-labile serum cofactor required for immune complexes to stimulate endothelial expression of the adhesion molecules E-selectin and intercellular and vascular cell adhesion molecules 1.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(18):8378-82.
1995: P J Healy; P J Nicholls; F Martiniuk; S Tzall; Rochelle Hirschhorn; J M Howell
Evidence of molecular heterogeneity for generalised glycogenosis between and within breeds of cattle.
Australian veterinary journal 1995;72(8):309-11.
1994: Maryann L Huie; A S Chen; S Tsujino; S Shanske; S DiMauro; A G Engel; Rochelle Hirschhorn
Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation.
Human molecular genetics 1994;3(12):2231-6.
1994: Rochelle Hirschhorn; D R Yang; A Israni; Maryann L Huie; Dennis Ownby
Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.
American journal of human genetics 1994;55(1):59-68.
1994: Maryann L Huie; A S Chen; S S Brooks; A Grix; Rochelle Hirschhorn
A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).
Human molecular genetics 1994;3(7):1081-7.
1994: D R Yang; Maryann L Huie; Rochelle Hirschhorn
Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID).
Clinical immunology and immunopathology 1994;70(2):171-5.
1994: Rochelle Hirschhorn; D R Yang; A Israni
An Asp8Asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover.
Annals of human genetics 1994;58(Pt 1):1-9.
1994: Maryann L Huie; Rochelle Hirschhorn; A S Chen; F Martiniuk; N Zhong
Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease).
Human mutation 1994;4(4):291-3.
1993: Rochelle Hirschhorn; D R Yang; R A Insel; M Ballow
Severe combined immunodeficiency of reduced severity due to homozygosity for an adenosine deaminase missense mutation (Arg253Pro).
Cellular immunology 1993;152(2):383-93.
1993: Rochelle Hirschhorn
Overview of biochemical abnormalities and molecular genetics of adenosine deaminase deficiency.
Pediatric research 1993;33(1 Suppl):S35-41.
1993: Rochelle Hirschhorn; A S Chen; A Israni; D R Yang; Maryann L Huie
Two new mutations at the adenosine deaminase (ADA) locus (Q254X and del nt1050-54) unusual for not being missense mutations.
Human mutation 1993;2(4):320-3.
1992: Rochelle Hirschhorn; M N Nicknam; F Eng; D R Yang; William Borkowsky
Novel deletion and a new missense mutation (Glu 217 Lys) at the catalytic site in two adenosine deaminase alleles of a patient with neonatal onset adenosine deaminase- severe combined immunodeficiency.
Journal of immunology (Baltimore, Md. : 1950) 1992;149(9):3107-12.
1992: Bruce N Cronstein; Richard I Levin; Mark R Philips; Rochelle Hirschhorn; Steven B Abramson; Gerald Weissmann
Neutrophil adherence to endothelium is enhanced via adenosine A1 receptors and inhibited via adenosine A2 receptors.
Journal of immunology (Baltimore, Md. : 1950) 1992;148(7):2201-6.
1992: Rochelle Hirschhorn; A Ellenbogen; S Tzall
Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA--patients with severe combined immunodeficiency (ADA-SCID).
American journal of medical genetics 1992;42(2):201-7.
1992: Rochelle Hirschhorn
Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions.
Human mutation 1992;1(2):166-8.
1991: F Martiniuk; Mark F Mehler; M Bodkin; S Tzall; K Hirschhorn; N Zhong; Rochelle Hirschhorn
Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.
DNA and cell biology 1991;10(9):681-7.
1991: Rochelle Hirschhorn; V Chakravarti; J Puck; S D Douglas
Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).
American journal of human genetics 1991;49(4):878-85.
1991: N Zhong; F Martiniuk; S Tzall; Rochelle Hirschhorn
Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.
American journal of human genetics 1991;49(3):635-45.
1991: F Martiniuk; M Bodkin; S Tzall; Rochelle Hirschhorn
Isolation and partial characterization of the structural gene for human acid alpha glucosidase.
DNA and cell biology 1991;10(4):283-92.
1991: S Tzall; F Martiniuk; Rochelle Hirschhorn
Identification of a HindIII and a TaqI RFLP at the acid alpha glucosidase (GAA) locus.
Nucleic acids research 1991;19(7):1727.
1991: S Tzall; F Martiniuk; Laurie J Ozelius; James Gusella; Rochelle Hirschhorn
Further characterization of PstI RFLPs at the acid alpha glucosidase (GAA) locus.
Nucleic acids research 1991;19(7):1727.
1991: F Martiniuk; Rochelle Hirschhorn; Peter D'Eustachio
Linkage of acid alpha-glucosidase (Gaa) and thymidine kinase (Tk-1) to esterase-3 (Es-3) on mouse chromosome 11.
Mammalian genome : official journal of the International Mammalian Genome Society 1991;1(4):267-9.
1990: F Martiniuk; M Bodkin; S Tzall; Rochelle Hirschhorn
Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in deficient cells.
American journal of human genetics 1990;47(3):440-5.
1990: Jonathan L Haines; Laurie J Ozelius; H McFarlane; A Menon; S Tzall; F Martiniuk; Rochelle Hirschhorn; James Gusella
A genetic linkage map of chromosome 17.
Genomics 1990;8(1):1-6.
1990: Rochelle Hirschhorn; S Tzall; A Ellenbogen
Hot spot mutations in adenosine deaminase deficiency.
Proceedings of the National Academy of Sciences of the United States of America 1990;87(16):6171-5.
1990: F Martiniuk; Mark F Mehler; S Tzall; G Meredith; Rochelle Hirschhorn
Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA.
American journal of human genetics 1990;47(1):73-8.
1990: S Tzall; F Martiniuk; Rochelle Hirschhorn
Further characterization of SacI RFLPs at the acid alpha glucosidase (GAA) locus.
Nucleic acids research 1990;18(7):1930.
1990: S Tzall; F Martiniuk; A Adler; Rochelle Hirschhorn
Identification of an RsaI RFLP at the acid alpha glucosidase (GAA) locus.
Nucleic acids research 1990;18(6):1661.
1990: F Martiniuk; Mark F Mehler; S Tzall; G Meredith; Rochelle Hirschhorn
Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences.
DNA and cell biology 1990;9(2):85-94.
1990: Rochelle Hirschhorn
Adenosine deaminase deficiency.
Immunodeficiency reviews 1990;2(3):175-98.
1989: Howard Ratech; Rochelle Hirschhorn; M Alba Greco
Pathologic findings in adenosine deaminase deficient-severe combined immunodeficiency. II. Thymus, spleen, lymph node, and gastrointestinal tract lymphoid tissue alterations.
The American journal of pathology 1989;135(6):1145-56.
1989: S M Kubersky; Rochelle Hirschhorn; M J Broekman; Bruce N Cronstein
Occupancy of adenosine receptors on human neutrophils inhibits respiratory burst stimulated by ingestion of complement-coated particles and occupancy of chemoattractant but not Fc receptors.
Inflammation 1989;13(5):591-9.
1989: S Tzall; A Ellenbogen; F Eng; Rochelle Hirschhorn
Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locus.
American journal of human genetics 1989;44(6):864-75.
1989: Rochelle Hirschhorn; S Tzall; A Ellenbogen; Stuart H Orkin
Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency.
The Journal of clinical investigation 1989;83(2):497-501.
1988: Bruce N Cronstein; S B Kramer; Elliot D Rosenstein; H M Korchak; Gerald Weissmann; Rochelle Hirschhorn
Occupancy of adenosine receptors raises cyclic AMP alone and in synergy with occupancy of chemoattractant receptors and inhibits membrane depolarization.
The Biochemical journal 1988;252(3):709-15.
1988: F R Rose; Rochelle Hirschhorn; Gerald Weissmann; Bruce N Cronstein
Adenosine promotes neutrophil chemotaxis.
The Journal of experimental medicine 1988;167(3):1186-94.
1986: F Martiniuk; Mark F Mehler; A Pellicer; S Tzall; G La Badie; C Hobart; A Ellenbogen; Rochelle Hirschhorn
Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients.
Proceedings of the National Academy of Sciences of the United States of America 1986;83(24):9641-4.
1986: Bruce N Cronstein; Richard I Levin; J Belanoff; Gerald Weissmann; Rochelle Hirschhorn
Adenosine: an endogenous inhibitor of neutrophil-mediated injury to endothelial cells.
The Journal of clinical investigation 1986;78(3):760-70.
1986: F Martiniuk; A Pellicer; Mark F Mehler; Rochelle Hirschhorn
Detection, frequency, and stability of cotransformants expressing nonselectable human enzymes.
Somatic cell and molecular genetics 1986;12(1):1-12.
1985: Bruce N Cronstein; Elliot D Rosenstein; S B Kramer; Gerald Weissmann; Rochelle Hirschhorn
Adenosine; a physiologic modulator of superoxide anion generation by human neutrophils. Adenosine acts via an A2 receptor on human neutrophils.
Journal of immunology (Baltimore, Md. : 1950) 1985;135(2):1366-71.
1985: Howard Ratech; M Alba Greco; G Gallo; D L Rimoin; Hideko Kamino; Rochelle Hirschhorn
Pathologic findings in adenosine deaminase-deficient severe combined immunodeficiency. I. Kidney, adrenal, and chondro-osseous tissue alterations.
The American journal of pathology 1985;120(1):157-69.
1985: Rochelle Hirschhorn; A Ellenbogen; F Martiniuk
An approach to a selection system for adenosine-deaminase-positive (ADA+) cells and detection of rat ADA+ "revertants".
Journal of cellular physiology 1985;123(2):277-82.
1985: F Martiniuk; A Ellenbogen; Rochelle Hirschhorn
Identity of neutral alpha-glucosidase AB and the glycoprotein processing enzyme glucosidase II. Biochemical and genetic studies.
The Journal of biological chemistry 1985;260(2):1238-42.
1985: F Martiniuk; A Ellenbogen; K Hirschhorn; Rochelle Hirschhorn
Further regional localization of the genes for human acid alpha glucosidase (GAA), peptidase D (PEPD), and alpha mannosidase B (MANB) by somatic cell hybridization.
Human genetics 1985;69(2):109-11.
1985: Bruce N Cronstein; S B Kramer; Elliot D Rosenstein; Gerald Weissmann; Rochelle Hirschhorn
Adenosine modulates the generation of superoxide anion by stimulated human neutrophils via interaction with a specific cell surface receptor.
Annals of the New York Academy of Sciences 1985;451():291-301.
1984: Bruce N Cronstein; S B Kramer; Gerald Weissmann; Rochelle Hirschhorn
Adenosine deaminase is not required for the generation of superoxide anion.
Clinical immunology and immunopathology 1984;30(3):495-9.
1984: J Honig; F Martiniuk; P D'Eustachio; C Zamfirescu; R Desnick; K Hirschhorn; L R Hirschhorn; Rochelle Hirschhorn
Confirmation of the regional localization of the genes for human acid alpha-glucosidase (GAA) and adenosine deaminase (ADA) by somatic cell hybridization.
Annals of human genetics 1984;48(Pt 1):49-56.
1983: Bruce N Cronstein; S B Kramer; Gerald Weissmann; Rochelle Hirschhorn
Adenosine: a physiological modulator of superoxide anion generation by human neutrophils.
The Journal of experimental medicine 1983;158(4):1160-77.
1983: Rochelle Hirschhorn; F Martiniuk; V Roegner-Maniscalco; A Ellenbogen; J L Perignon; T Jenkins
Genetic heterogeneity in partial adenosine deaminase deficiency.
The Journal of clinical investigation 1983;71(6):1887-92.
1983: F Martiniuk; M Smith; A Ellenbogen; R J Desnick; K Astrin; J Mitra; Rochelle Hirschhorn
Assignment of the gene for neutral alpha-glucosidase AB to chromosome 11.
Cytogenetics and cell genetics 1983;35(2):110-6.
1983: Bruce N Cronstein; S B Kramer; Gerald Weissmann; Rochelle Hirschhorn
A new physiological function for adenosine: regulation of superoxide anion production.
Transactions of the Association of American Physicians 1983;96():384-91.
1982: Rochelle Hirschhorn; Howard Ratech; Arye Rubinstein; P Papageorgiou; H Kesarwala; E Gelfand; V Roegner-Maniscalco
Increased excretion of modified adenine nucleosides by children with adenosine deaminase deficiency.
Pediatric research 1982;16(5):362-9.
1981: Rochelle Hirschhorn; V Roegner-Maniscalco; L Kuritsky; F S Rosen
Bone marrow transplantation only partially restores purine metabolites to normal in adenosine deaminase-deficient patients.
The Journal of clinical investigation 1981;68(6):1387-93.