Publications
1999 - 1998 - 1997 - 1996 - 1995 ...
Roessler E., Mittaz L., Du Y., Scott H.S., Chang J., Rossier C., Guipponi M., Matsuda S.P., Muenke M. & Antonarakis S.E. (1999). Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1). Hum Genet. Nov;105(5):489-95. PubMed
Chen H, Rossier C, Morris MA, Scott HS, Gos A, Bairoch A, Antonarakis SE. (1999). A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y. Hum Genet. Nov;105(5):399-409.
Chrast R, Scott HS, Antonarakis SE. (1999). Linearization and purification of BAC DNA for the development of transgenic mice. Transgenic Res. 1999 Apr;8(2):147-50.
Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H, Bottani A, Chandal D, Blouin JL, Solanki JV, Grzeschik KH, Antonarakis SE. (1999). The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. Am J Hum Genet. Sep;65(3):645-55.
Lalioti MD, Scott HS, Antonarakis S.E. (1999). Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1. Hum Mol Genet. Sep;8(9):1791-8.
Heino M, Peterson P, Kudoh J, Nagamine K, Lagerstedt A, Ovod V, Ranki A, Rantala I, Nieminen M, Tuukkanen J, Scott HS, Antonarakis SE, Shimizu N, Krohn K. (1999). Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla.
Biochem Biophys Res Commun. Apr 21;257(3):821-5.
Mittaz L., Rossier C., Heino M., Peterson P., Krohn K.J., Gos A., Morris M.A., Kudoh J., Shimizu N., Antonarakis S.E. & Scott H.S. (1999). Isolation and characterization of the mouse Aire gene. Biochem Biophys Res Commun. Feb 16;255(2):483-90.
Heino M., Scott H.S., Chen Q., Peterson P., Maebpaa U., Papasavvas M.P., Mittaz L., Barras C., Rossier C., Chrousos G.P., Stratakis C.A., Nagamine K., Kudoh J., Shimizu N., Maclaren N., Antonarakis S.E., Krohn K. (1999). Mutation analyses of North American APS-1 patients. Hum Mutat. 13(1):69-74.
Guipponi M, Scott HS, Hattori M, Ishii K, Sakaki Y, Antonarakis SE. Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2.
Cytogenet Cell Genet. 1998;83(3-4):218-20. PMID: 10072581
Rosatelli MC, Meloni A, Meloni A, Devoto M, Cao A, Scott HS, Peterson P, Heino M, Krohn KJ, Nagamine K, Kudoh J, Shimizu N, Antonarakis SE. A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. Hum Genet. 1998 Oct;103(4):428-34. PMID: 9856486
Guipponi M, Scott HS, Kudoh J, Kawasaki K, Shibuya K, Shintani A, Asakawa S, Chen H, Lalioti MD, Rossier C, Minoshima S, Shimizu N, Antonarakis SE. Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence.
Hum Genet. 1998 Oct;103(4):386-92.
PMID: 9856478
Mehenni H, Gehrig C, Nezu J, Oku A, Shimane M, Rossier C, Guex N, Blouin JL, Scott HS, Antonarakis SE. ,
Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity.
Am J Hum Genet. 1998 Dec;63(6):1641-50.
PMID: 9837816
Guipponi M, Scott HS, Chen H, Schebesta A, Rossier C, Antonarakis SE. Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon.
Genomics. 1998 Nov 1;53(3):369-76.
PMID: 9799604
Scott HS, Heino M, Peterson P, Mittaz L, Lalioti MD, Betterle C, Cohen A, Seri M, Lerone M, Romeo G, Collin P, Salo M, Metcalfe R, Weetman A, Papasavvas MP, Rossier C, Nagamine K, Kudoh J, Shimizu N, Krohn KJ, Antonarakis SE. Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.
Mol Endocrinol. 1998 Aug;12(8):1112-9.
PMID: 9717837
Lalioti MD, Scott HS, Genton P, Grid D, Ouazzani R, M'Rabet A, Ibrahim S, Gouider R, Dravet C, Chkili T, Bottani A, Buresi C, Malafosse A, Antonarakis SE. ,
A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.
Am J Hum Genet. 1998 Apr;62(4):842-7.
PMID: 9529356
Lapenta V, Sossi V, Gosset P, Vayssettes C, Vitali T, Rabatel N, Tassone F, Blouin JL, Scott HS, Antonarakis SE, Creau N, Brahe C. Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3.
Genomics. 1998 Apr 1;49(1):1-13.
PMID: 9570943
Scott HS, Antonarakis SE, Lalioti MD, Rossier C, Silver PA, Henry MF. Identification and characterization of two putative human arginine methyltransferases (HRMT1L1 and HRMT1L2).
Genomics. 1998 Mar 15;48(3):330-40.
PMID: 9545638
Scott HS, Kyriakou DS, Peterson P, Heino M, Tahtinen M, Krohn K, Chen H, Rossier C, Lalioti MD, Antonarakis SE. Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis.
Genomics. 1998 Jan 1;47(1):64-70.
PMID: 9465297
Gatti R, DiNatale P, Villani GR, Filocamo M, Muller V, Guo XH, Nelson PV, Scott HS, Hopwood JJ. ,
Mutations among Italian mucopolysaccharidosis type I patients.
J Inherit Metab Dis. 1997 Nov;20(6):803-6.
PMID: 9427149
Chicheportiche Y, Bourdon PR, Xu H, Hsu YM, Scott H, Hession C, Garcia I, Browning JL. TWEAK, a new secreted ligand in the tumor necrosis factor family that weakly induces apoptosis. J Biol Chem. 1997 Dec 19;272(51):32401-10.
PMID: 9405449
Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Krohn KJ, Lalioti MD, Mullis PE, Antonarakis SE, Kawasaki K, Asakawa S, Ito F, Shimizu N. Positional cloning of the APECED gene.
Nat Genet. 1997 Dec;17(4):393-8.
PMID: 9398839
Lalioti MD, Scott HS, Antonarakis SE. ,
What is expanded in progressive myoclonus epilepsy?
Nat Genet. 1997 Sep;17(1):17. .
PMID: 9288090
Mittaz L, Antonarakis SE, Higuchi M, Scott HS. ,
Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15.
Hum Genet. 1997 Sep;100(3-4):398-400.
PMID: 9272162
Chrast R, Scott HS, Chen H, Kudoh J, Rossier C, Minoshima S, Wang Y, Shimizu N, Antonarakis SE. Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region.
Genome Res. 1997 Jun;7(6):615-24.
PMID: 9199934
Blanch L, Weber B, Guo XH, Scott HS, Hopwood JJ. , , Protein
Molecular defects in Sanfilippo syndrome type A.
Hum Mol Genet. 1997 May;6(5):787-91.
PMID: 9158154
Scott HS, Chen H, Rossier C, Lalioti MD, Antonarakis SE. , , Protein
Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3.
Hum Genet. 1997 May;99(5):616-23.
PMID: 9150728
Lalioti MD, Scott HS, Buresi C, Rossier C, Bottani A, Morris MA, Malafosse A, Antonarakis SE. ,
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy.
Nature. 1997 Apr 24;386(6627):847-51.
PMID: 9126745
Mittaz L, Scott HS, Rossier C, Seeburg PH, Higuchi M, Antonarakis SE. Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3.
Genomics. 1997 Apr 15;41(2):210-7.
PMID: 9143496
Karageorgos LE, Guo XH, Blanch L, Weber B, Anson DS, Scott HS, Hopwood JJ. Structure and sequence of the human sulphamidase gene.
DNA Res. 1996 Aug 31;3(4):269-71.
PMID: 8946167
Moscioni AD, Rozga J, Chen S, Naim A, Scott HS, Demetriou AA.
Long-term correction of albumin levels in the Nagase analbuminemic rat: repopulation of the liver by transplanted normal hepatocytes under a regeneration response.
Cell Transplant. 1996 Jul-Aug;5(4):499-503.
PMID: 8800518
Weber B, Blanch L, Clements PR, Scott HS, Hopwood JJ. , , Protein
Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B).
Hum Mol Genet. 1996 Jun;5(6):771-7.
PMID: 8776591
Scott HS, Blanch L, Guo XH, Freeman C, Orsborn A, Baker E, Sutherland GR, Morris CP, Hopwood JJ. Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome.
Nat Genet. 1995 Dec;11(4):465-7.
PMID: 7493035
Scott HS, Bunge S, Gal A, Clarke LA, Morris CP, Hopwood JJ. , , Protein
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.
Hum Mutat. 1995;6(4):288-302. Review.
PMID: 8680403
1994
Morris CP, Guo XH, Apostolou S, Hopwood JJ, Scott HS. , Protein
Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene.
Genomics. 1994 Aug;22(3):652-4.
PMID: 8001980
Bunge S, Kleijer WJ, Steglich C, Beck M, Zuther C, Morris CP, Schwinger E, Hopwood JJ, Scott HS, Gal A. , , Protein
Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.
Hum Mol Genet. 1994 Jun;3(6):861-6.
PMID: 7951228
Clarke LA, Nelson PV, Warrington CL, Morris CP, Hopwood JJ, Scott HS. , Protein
Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations.
Hum Mutat. 1994;3(3):275-82.
PMID: 8019563
1993
Scott HS, Litjens T, Nelson PV, Thompson PR, Brooks DA, Hopwood JJ, Morris CP. , , Protein
Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.
Am J Hum Genet. 1993 Nov;53(5):973-86.
PMID: 8213840
Scott HS, Nelson PV, Litjens T, Hopwood JJ, Morris CP. , Protein
Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype.
Hum Mol Genet. 1993 Sep;2(9):1471-3. .
PMID: 8242073
Clarke LA, Scott HS. , Protein
Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.
Hum Mol Genet. 1993 Aug;2(8):1311-2. .
PMID: 8401515
Hopwood JJ, Vellodi A, Scott HS, Morris CP, Litjens T, Clements PR, Brooks DA, Cooper A, Wraith JE. ,
Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype.
J Inherit Metab Dis. 1993;16(6):1024-33.
PMID: 8127052
1992
Scott HS, Nelson PV, MacDonald ME, Gusella JF, Hopwood JJ, Morris CP. An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus.
Genomics. 1992 Dec;14(4):1118-20. .
PMID: 1478658
Scott HS, Litjens T, Hopwood JJ, Morris CP. PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene.
Hum Genet. 1992 Nov;90(3):327.
PMID: 1362562
Scott HS, Guo XH, Hopwood JJ, Morris CP. Structure and sequence of the human alpha-L-iduronidase gene.
Genomics. 1992 Aug;13(4):1311-3.
PMID: 1505961
Scott HS, Nelson PV, Cooper A, Wraith JE, Hopwood JJ, Morris CP. ,
Mucopolysaccharidosis type I (Hurler syndrome): linkage disequilibrium indicates the presence of a major allele.
Hum Genet. 1992 Mar;88(6):701-2.
PMID: 1551679
Koizumi T, MacDonald M, Bucan M, Hopwood JJ, Morris CP, Scott HS, Gusella JF, Nadeau JH.
Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes.
Mamm Genome. 1992;3(1):23-7.
PMID: 1533802
Scott HS, Litjens T, Nelson PV, Brooks DA, Hopwood JJ, Morris CP. , , Protein
alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.
Hum Mutat. 1992;1(4):333-9.
PMID: 1301941
Scott HS, Litjens T, Hopwood JJ, Morris CP. ,
A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.
Hum Mutat. 1992;1(2):103-8.
PMID: 1301196
1991
Scott HS, Nelson PV, Hopwood JJ, Morris CP. PCR of a VNTR linked to mucopolysaccharidosis type I and Huntington disease.
Nucleic Acids Res. 1991 Nov 25;19(22):6348. .
PMID: 1835536
Scott HS, Anson DS, Orsborn AM, Nelson PV, Clements PR, Morris CP, Hopwood JJ. ,
Human alpha-L-iduronidase: cDNA isolation and expression.
Proc Natl Acad Sci U S A. 1991 Nov 1;88(21):9695-9.
PMID: 1946389
Scott HS, Nelson PV, Hopwood JJ, Morris CP.
PCR of a KpnI RFLP in the alpha-L-iduronidase (IDUA) gene.
Nucleic Acids Res. 1991 Oct 25;19(20):5796. .
PMID: 1682883
MacDonald ME, Scott HS, Whaley WL, Pohl T, Wasmuth JJ, Lehrach H, Morris CP, Frischauf AM, Hopwood JJ, Gusella JF. ,
Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.
Somat Cell Mol Genet. 1991 Jul;17(4):421-5.
PMID: 1832239
1990
Scott HS, Ashton LJ, Eyre HJ, Baker E, Brooks DA, Callen DF, Sutherland GR, Morris CP, Hopwood JJ. ,
Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3.
Am J Hum Genet. 1990 Nov;47(5):802-7.
PMID: 2220820
Last modified on the 5th October 2005.
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