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Lawrence Shapiro

Research Profile

Anatomy

Chemicals & Drugs

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X-Linked Ichthyosis

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Eduardo Salido; Xiao M Li; Yang Lu; Xia Wang; Alfredo Santana; Namita Roy-Chowdhury; Armando Torres; Lawrence J Shapiro; Jayanta Roy-Chowdhury
Alanine-glyoxylate aminotransferase-deficient mice, a model for primary hyperoxaluria that responds to adenoviral gene transfer.
Chandan Guha; Kosho Yamanouchi; Jinlan Jiang; Xia Wang; Namita Roy-Chowdhury; Alfredo Santana; Lawrence J Shapiro; Eduardo Salido; Jayanta Roy-Chowdhury
Feasibility of hepatocyte transplantation-based therapies for primary hyperoxalurias.
Alfredo Santana; Eduardo Salido; Armando Torres; Lawrence J Shapiro
Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase.

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All Publications

2006: Eduardo Salido; Xiao M Li; Yang Lu; Xia Wang; Alfredo Santana; Namita Roy-Chowdhury; Armando Torres; Lawrence J Shapiro; Jayanta Roy-Chowdhury
Alanine-glyoxylate aminotransferase-deficient mice, a model for primary hyperoxaluria that responds to adenoviral gene transfer.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(48):18249-54.
2005: Chandan Guha; Kosho Yamanouchi; Jinlan Jiang; Xia Wang; Namita Roy-Chowdhury; Alfredo Santana; Lawrence J Shapiro; Eduardo Salido; Jayanta Roy-Chowdhury
Feasibility of hepatocyte transplantation-based therapies for primary hyperoxalurias.
American journal of nephrology 2005;25(2):161-70.
2003: Alfredo Santana; Eduardo Salido; Armando Torres; Lawrence J Shapiro
Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(12):7277-82.
2001: Lawrence J Shapiro
American Pediatric Society John Howland Award 1999: presentation to Abraham Morris Rudolph, MD(1).
Pediatric research 2001;49(1):11-7.
1999: X M Li; Eduardo Salido; Lawrence J Shapiro
The mouse alanine:glyoxylate aminotransferase gene (Agxt1): cloning, expression, and mapping to chromosome 1.
Somatic cell and molecular genetics 1999;25(2):67-77.
1998: I A Glass; R C Lam; T Chang; Esther Roitman; Lawrence J Shapiro; Cedric H L Shackleton
Steroid sulphatase deficiency is the major cause of extremely low oestriol production at mid-pregnancy: a urinary steroid assay for the discrimination of steroid sulphatase deficiency from other causes.
Prenatal diagnosis 1998;18(8):789-800.
1997: Lawrence J Shapiro; Melvin M Grumbach
American Pediatric Society John Howland Award 1997: presentation and acceptance.
Pediatric research 1997;42(6):902-8.
1997: Nathalie A Compagnone; Eduardo Salido; Lawrence J Shapiro; Synthia H Mellon
Expression of steroid sulfatase during embryogenesis.
Endocrinology 1997;138(11):4768-73.
1997: E S Alperin; Lawrence J Shapiro
Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein.
The Journal of biological chemistry 1997;272(33):20756-63.
1997: RA Freiberg; Keith Choate; H Deng; E S Alperin; Lawrence J Shapiro; Paul A Khavari
A model of corrective gene transfer in X-linked ichthyosis.
Human molecular genetics 1997;6(6):927-33.
1996: J W Ellison; EC Salido; Lawrence J Shapiro
Genetic mapping of the adenine nucleotide translocase-2 gene (Ant2) to the mouse proximal X chromosome.
Genomics 1996;36(2):369-71.
1996: I A Glass; Merry Passage; L Bernatowicz; EC Salido; T Mohandas; Pauline H Yen; Lawrence J Shapiro
Generation of sequence-tagged sites from Xp22.3 by isolating common Alu-PCR products of radiation hybrids retaining overlapping human X chromosome fragments.
Human genetics 1996;97(5):604-10.
1996: X M Li; E S Alperin; EC Salido; Y Gong; P Yen; Lawrence J Shapiro
Characterization of the promoter region of human steroid sulfatase: a gene which escapes X inactivation.
Somatic cell and molecular genetics 1996;22(2):105-17.
1996: J W Ellison; X Li; U Francke; Lawrence J Shapiro
Rapid evolution of human pseudoautosomal genes and their mouse homologs.
Mammalian genome : official journal of the International Mammalian Genome Society 1996;7(1):25-30.
1994: J Wu; EC Salido; Pauline H Yen; Thuluvancheri K Mohandas; Hong-Qiang Heng; L C Tsui; J Park; Verne M Chapman; Lawrence J Shapiro
The murine Xe169 gene escapes X-inactivation like its human homologue.
Nature genetics 1994;7(4):491-6.
1994: J Wu; James Ellison; EC Salido; P Yen; T Mohandas; Lawrence J Shapiro
Isolation and characterization of XE169, a novel human gene that escapes X-inactivation.
Human molecular genetics 1994;3(1):153-60.
1993: X M Li; Lawrence J Shapiro
Three-step PCR mutagenesis for 'linker scanning'.
Nucleic acids research 1993;21(16):3745-8.
1993: RV Lebo; Eric D Lynch; M S Golbus; R R Flandermeyer; Pauline H Yen; Lawrence J Shapiro
Prenatal in situ hybridization test for deleted steroid sulfatase gene.
American journal of medical genetics 1993;46(6):652-8.
1993: EC Salido; Merry Passage; Pauline H Yen; Lawrence J Shapiro; Thuluvancheri K Mohandas
An evaluation of the inactive mouse X chromosome in somatic cell hybrids.
Somatic cell and molecular genetics 1993;19(1):65-71.
1992: J W Ellison; C Ramos; Pauline H Yen; Lawrence J Shapiro
Structure and expression of the human pseudoautosomal gene XE7.
Human molecular genetics 1992;1(9):691-6.
1992: Thuluvancheri K Mohandas; R M Speed; Merry Passage; Pauline H Yen; AC Chandley; Lawrence J Shapiro
Role of the pseudoautosomal region in sex-chromosome pairing during male meiosis: meiotic studies in a man with a deletion of distal Xp.
American journal of human genetics 1992;51(3):526-33.
1992: J C Wang; Merry Passage; James Ellison; Michael A Becker; Pauline H Yen; Lawrence J Shapiro; Thuluvancheri K Mohandas
Physical mapping of loci in the distal half of the short arm of the human X chromosome: implications for the spreading of X-chromosome inactivation.
Somatic cell and molecular genetics 1992;18(2):195-200.
1992: EC Salido; Pauline H Yen; K Koprivnikar; L C Yu; Lawrence J Shapiro
The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes.
American journal of human genetics 1992;50(2):303-16.
1991: Pauline H Yen; S P Tsai; S L Wenger; M W Steele; Thuluvancheri K Mohandas; Lawrence J Shapiro
X/Y translocations resulting from recombination between homologous sequences on Xp and Yq.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(20):8944-8.
1991: C L Johnson; P Charmley; Pauline H Yen; Lawrence J Shapiro
A multipoint linkage map of the distal short arm of the human X chromosome.
American journal of human genetics 1991;49(2):261-6.
1991: J C Wang; Merry Passage; Pauline H Yen; Lawrence J Shapiro; Thuluvancheri K Mohandas
Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.
American journal of human genetics 1991;48(6):1069-74.
1991: Michael A Becker; S A Heidler; J M Nosal; Robert L Switzer; M M LeBeau; Lawrence J Shapiro; T D Palella; Blake J Roessler
Human phosphoribosylpyrophosphate synthetase (PRS) 2: an independent active, X chromosome-linked PRS isoform.
Advances in experimental medicine and biology 1991;309B():129-32.
1990: Nathan Ellis; P Yen; K Neiswanger; Lawrence J Shapiro; P N Goodfellow
Evolution of the pseudoautosomal boundary in Old World monkeys and great apes.
Cell 1990;63(5):977-86.
1990: Michael A Becker; S A Heidler; Graeme I Bell; S Seino; Michelle M Le Beau; Carol A Westbrook; W Neuman; Lawrence J Shapiro; Thuluvancheri K Mohandas; Blake J Roessler
Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genes.
Genomics 1990;8(3):555-61.
1990: RV Lebo; G Cunningham; Malcolm Simons; Lawrence J Shapiro
Defining DNA diagnostic tests appropriate or standard clinical care.
American journal of human genetics 1990;47(3):583-90.
1990: Pauline H Yen; X M Li; S P Tsai; C Johnson; T Mohandas; Lawrence J Shapiro
Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements.
Cell 1990;61(4):603-10.
1990: X M Li; P Yen; T Mohandas; Lawrence J Shapiro
A long range restriction map of the distal human X chromosome short arm around the steroid sulfatase locus.
Nucleic acids research 1990;18(9):2783-8.
1990: Thuluvancheri K Mohandas; H J Stern; C A Meeker; Merry Passage; U Müller; D C Page; Pauline H Yen; Lawrence J Shapiro
Steroid sulfatase gene in XX males.
American journal of human genetics 1990;46(2):369-76.
1989: Lawrence J Shapiro; P Yen; D Pomerantz; E Martin; L Rolewic; T Mohandas
Molecular studies of deletions at the human steroid sulfatase locus.
Proceedings of the National Academy of Sciences of the United States of America 1989;86(21):8477-81.
1989: Thuluvancheri K Mohandas; Merry Passage; J W Williams; R S Sparkes; Pauline H Yen; Lawrence J Shapiro
X-chromosome inactivation in cultured cells from human chorionic villi.
Somatic cell and molecular genetics 1989;15(2):131-6.
1988: Pauline H Yen; B Marsh; E Allen; S P Tsai; James Ellison; L Connolly; K Neiswanger; Lawrence J Shapiro
The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: evidence for an inversion of the Y chromosome during primate evolution.
Cell 1988;55(6):1123-35.
1982: L Venolia; S M Gartler; E R Wassman; P Yen; T Mohandas; Lawrence J Shapiro
Transformation with DNA from 5-azacytidine-reactivated X chromosomes.
Proceedings of the National Academy of Sciences of the United States of America 1982;79(7):2352-4.