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Genotyping an immunodeficiency causing c.1624-11G>A ZAP70 mutation in Canadian Mennonites

BMC medical genetics, 2016-07, Vol.17 (1), p.50-50, Article 50

2016

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Crystallographic Evidence for Substrate-assisted Catalysis in a Bacterial β-Hexosaminidase

The Journal of biological chemistry, 2001-03, Vol.276 (13), p.10330-10337

2001

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HNF-1α G319S, A Transactivation-Deficient Mutant, is Associated with Altered Dynamics of Diabetes Onset in an Oji-Cree Community

Proceedings of the National Academy of Sciences - PNAS, 2002-04, Vol.99 (7), p.4614-4619

2002

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Molecular basis of succinylcholine sensitivity in a prairie Hutterite kindred and genetic characterization of the region containing the BCHE gene

Molecular genetics and metabolism, 2007-02, Vol.90 (2), p.210-216

2007

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Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease

American journal of human genetics, 1991-11, Vol.49 (5), p.1041-1054

1991

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6 Generation and characterization of a hyaluronidase 3 deficient mouse model

Molecular genetics and metabolism, 2007-12, Vol.92 (4), p.12-12

2007

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Nucleotide sequence of katG, encoding catalase HPI of Escherichia coli

Journal of Bacteriology, 1988-09, Vol.170 (9), p.4415-4419

1988

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Characterization of the murine hyaluronidase gene region reveals complex organization and cotranscription of Hyal1 with downstream genes, Fus2 and Hyal3

The Journal of biological chemistry, 2002-06, Vol.277 (25), p.23008-23018

2002

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Structural and Functional Characterization of Streptomyces plicatus β-N-Acetylhexosaminidase by Comparative Molecular Modeling and Site-directed Mutagenesis

The Journal of biological chemistry, 1998-07, Vol.273 (31), p.19618-19624

1998

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Mouse Hyal3 encodes a 45- to 56-kDa glycoprotein whose overexpression increases hyaluronidase 1 activity in cultured cells

Glycobiology (Oxford), 2008-04, Vol.18 (4), p.280-289

2008

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THE MITOPHAGY RECEPTOR NIX COORDINATES NUCLEAR CALCIUM SIGNALING TO MODULATE THE MUSCLE PHENOTYPE

Canadian journal of cardiology, 2023-10, Vol.39 (10), p.S240-S241

2023

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Mutations in HYAL1, a Member of a Tandemly Distributed Multigene Family Encoding Disparate Hyaluronidase Activities, Cause a Newly Described Lysosomal Disorder, Mucopolysaccharidosis IX

Proceedings of the National Academy of Sciences - PNAS, 1999-05, Vol.96 (11), p.6296-6300

1999

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Human growth factor receptor bound 14 binds the activated insulin receptor and alters the insulin-stimulated tyrosine phosphorylation levels of multiple proteins

Biochemistry and cell biology, 2001, Vol.79 (1), p.21-32

2001

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THE MITOPHAGY RECEPTOR NIX COORDINATES NUCLEAR CALCIUM SIGNALING TO MODULATE THE MUSCLE PHENOTYPE

Canadian journal of diabetes, 2023-11, Vol.47 (7), p.S200-S200

2023

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A novel HEXA mutation [1393G>A (D465N)] in a Mexican Tay-Sachs disease patient

Human mutation, 2001-05, Vol.17 (5), p.437-437

2001

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A mutation common in non-jewish Tay-Sachs disease: Frequency and RNA studies

Human mutation, 1992, Vol.1 (4), p.303-309

1992

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The Prevalence of the HNF-1α G319S Mutation in Canadian Aboriginal Youth With Type 2 Diabetes

Diabetes care, 2002-12, Vol.25 (12), p.2202-2206

2002

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Cloning and physical characterization of katE and katF required for catalase HPII expression in Escherichia coli

Gene, 1988-12, Vol.73 (2), p.337-345

1988

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Homology among bacterial catalase genes

Canadian journal of microbiology, 1990-10, Vol.36 (10), p.728-731

1990

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Genotyping an immunodeficiency causing c.1624-11GA ZAP70 mutation in Canadian Mennonites

BMC medical genetics, 2016-07, Vol.17 (1)

2016

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A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis

Human molecular genetics, 2008-09, Vol.17 (18), p.2919-2919

2008

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Assignment of Growth Factor Receptor-Bound Protein 10 (GRB10) to Human Chromosome 7p11.2–p12

Genomics (San Diego, Calif.), 1997-02, Vol.40 (1), p.215-216

1997

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A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening

American journal of human genetics, 1992-10, Vol.51 (4), p.793-801

1992

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A second mutation associated with apparent β-hexosaminidase A pseudodeficiency : identification and frequency estimation

American journal of human genetics, 1993-12, Vol.53 (6), p.1198-1205

1993

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Screening for Carriers of Tay-Sachs Disease among Ashkenazi Jews: A Comparison of DNA-Based and Enzyme-Based Tests

The New England journal of medicine, 1990-07, Vol.323 (1), p.6-12

1990

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Genotyping an immunodeficiency causing c.1624-11G>A ZAP70 mutation in Canadian Mennonites

Crystallographic Evidence for Substrate-assisted Catalysis in a Bacterial β-Hexosaminidase

HNF-1α G319S, A Transactivation-Deficient Mutant, is Associated with Altered Dynamics of Diabetes Onset in an Oji-Cree Community

Molecular basis of succinylcholine sensitivity in a prairie Hutterite kindred and genetic characterization of the region containing the BCHE gene

Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease

6 Generation and characterization of a hyaluronidase 3 deficient mouse model

Nucleotide sequence of katG, encoding catalase HPI of Escherichia coli

Characterization of the murine hyaluronidase gene region reveals complex organization and cotranscription of Hyal1 with downstream genes, Fus2 and Hyal3

Structural and Functional Characterization of Streptomyces plicatus β-N-Acetylhexosaminidase by Comparative Molecular Modeling and Site-directed Mutagenesis

Mouse Hyal3 encodes a 45- to 56-kDa glycoprotein whose overexpression increases hyaluronidase 1 activity in cultured cells

THE MITOPHAGY RECEPTOR NIX COORDINATES NUCLEAR CALCIUM SIGNALING TO MODULATE THE MUSCLE PHENOTYPE

Mutations in HYAL1, a Member of a Tandemly Distributed Multigene Family Encoding Disparate Hyaluronidase Activities, Cause a Newly Described Lysosomal Disorder, Mucopolysaccharidosis IX

Human growth factor receptor bound 14 binds the activated insulin receptor and alters the insulin-stimulated tyrosine phosphorylation levels of multiple proteins

THE MITOPHAGY RECEPTOR NIX COORDINATES NUCLEAR CALCIUM SIGNALING TO MODULATE THE MUSCLE PHENOTYPE

A novel HEXA mutation [1393G>A (D465N)] in a Mexican Tay-Sachs disease patient

A mutation common in non-jewish Tay-Sachs disease: Frequency and RNA studies

The Prevalence of the HNF-1α G319S Mutation in Canadian Aboriginal Youth With Type 2 Diabetes

Cloning and physical characterization of katE and katF required for catalase HPII expression in Escherichia coli

Homology among bacterial catalase genes

Genotyping an immunodeficiency causing c.1624-11GA ZAP70 mutation in Canadian Mennonites

A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis

Assignment of Growth Factor Receptor-Bound Protein 10 (GRB10) to Human Chromosome 7p11.2–p12

A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening

A second mutation associated with apparent β-hexosaminidase A pseudodeficiency : identification and frequency estimation

Screening for Carriers of Tay-Sachs Disease among Ashkenazi Jews: A Comparison of DNA-Based and Enzyme-Based Tests

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