Heng Wang

Summary

Publications

  1. ncbi A nonsense mutation of PEPD in four Amish children with prolidase deficiency
    Heng Wang
    Das Deutsch Center DDC Clinic for Special Needs Children, Middlefield, Ohio 44062, USA
    Am J Med Genet A 140:580-5. 2006
  2. ncbi Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements
    Heng Wang
    Das Deutsch Center (DDC) Clinic for Special Needs Children, Middlefield, Ohio 44062, USA
    Am J Med Genet A 143:1938-40. 2007
  3. ncbi Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke
    Baozhong Xin
    DDC Clinic for Special Needs Children, Middlefield, OH 44062, USA
    Proc Natl Acad Sci U S A 108:5372-7. 2011
  4. ncbi Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation
    Baozhong Xin
    DDC Clinic for Special Needs Children, Middlefield, OH 44062, USA
    Proc Natl Acad Sci U S A 107:258-63. 2010
  5. ncbi Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy
    Baozhong Xin
    Das Deutsch Center Clinic for Special Needs Children, Middlefield, Ohio 44062, USA
    Am J Med Genet A 143:2662-7. 2007
  6. ncbi [Fine mapping of susceptibility genes loci within chromosome 1 in Chinese Han families with type 2 diabetes]
    Wei-Nan Du
    National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, CAMS and PUMC, Beijing 100005, China
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao 24:234-7. 2002
  7. ncbi Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?
    Joanna C Bakowska
    Cellular Neurology Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892 3704, USA
    Arch Neurol 65:520-4. 2008
  8. ncbi Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features
    Mehryar Taban
    Department of Pediatric Ophthalmology and the Center for Genetic Eye Diseases, Cole Eye Institute, The Cleveland Clinic Foundation, Cleveland, OH 44195, USA
    J AAPOS 11:431-7. 2007
  9. ncbi Etiology of vision loss in ganglioside GM3 synthase deficiency
    Fahhad Farukhi
    Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
    Ophthalmic Genet 27:89-91. 2006
  10. ncbi [Single nucleotide polymorphisms in CAPN10 gene of Chinese population and its correlation with type 2 diabetes mellitus in Han people of northern China]
    Hong xia Sun
    National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, CAMS and PUMC, Beijing 100005, China
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao 24:228-33. 2002

Collaborators

  • K M Kaufman
  • R Scofield
  • B T Kurien
  • Baozhong Xin
  • Hong xia Sun
  • Hong-Xia Sun
  • Wei-Nan Du
  • Wei Huang
  • Bo-Qin Qiang
  • Zhu Chen
  • Zhi-Jian Yao
  • Fu-De Fang
  • Jin Zuo
  • Yan Shen
  • Jian-mei Hang
  • Haiyan Tan
  • Erik G Puffenberger
  • Aimin Zhou
  • Fu De Fang
  • Bo qin Qiang
  • Jian mei Hang
  • Zhi Jian Yao
  • Guo-Dong Wu
  • Joanna C Bakowska
  • Wei Nan Du
  • Mehryar Taban
  • Elias I Traboulsi
  • Fahhad Farukhi
  • Michael A Simpson
  • Yun-Feng Li
  • Hui-yuan Luo
  • Guo Dong Wu
  • Stephen Jones
  • Jilda Vargus-Adams
  • DIMITRIS AGAMANOLIS
  • Guiyun Wu
  • Alicia Bright
  • Claas Hinze
  • Susan Turben
  • Craig Blackstone
  • Charlotte J Sumner
  • Lihadh I Al-Gazali
  • John Tumbush
  • Erik Puffenberger
  • Dina S A Memoracion Peralta
  • Dina S A Memoracion-Peralta
  • Lihadh I Al Gazali
  • J R Bockoven
  • Claudia Dakkouri
  • Max Wiztnitzer
  • Harold Cross
  • Terry D Butters
  • Andrew H Crosby
  • Christos Proukakis
  • Kay Gurtz
  • Gabriele Reinkensmeier
  • Argyro Verganelaki
  • Frances M Platt
  • Max Wiznitzer
  • David A Priestman
  • Michael A Patton
  • David C A Neville
  • Raymond A Dwek
  • Anna Pryde
  • Hui yuan Luo
  • Zheng-wen Jiang
  • Jun Gu
  • Kui xing Zhang
  • Qi Sun
  • Jin-xiu Shi
  • Kui-xing Zhang
  • Xiu-feng Hua
  • Jin xiu Shi
  • Wei Gao
  • Zheng wen Jiang
  • Gui-bin Shi
  • Gui bin Shi
  • Yun Feng Li
  • Mo-Miao Xiong

Detail Information

Publications16

  1. ncbi A nonsense mutation of PEPD in four Amish children with prolidase deficiency
    Heng Wang
    Das Deutsch Center DDC Clinic for Special Needs Children, Middlefield, Ohio 44062, USA
    Am J Med Genet A 140:580-5. 2006
    ..793 T > C in exon 11, resulting in a premature stop-codon at amino acid residue 265 (p.R265X). It is speculated that the severe phenotype in these patients might be associated with the type of the PEPD gene mutation...
  2. ncbi Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements
    Heng Wang
    Das Deutsch Center (DDC) Clinic for Special Needs Children, Middlefield, Ohio 44062, USA
    Am J Med Genet A 143:1938-40. 2007
  3. ncbi Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke
    Baozhong Xin
    DDC Clinic for Special Needs Children, Middlefield, OH 44062, USA
    Proc Natl Acad Sci U S A 108:5372-7. 2011
    ..The function of SAMHD1 remains unclear, but the inflammatory vasculopathies of the brain found in the patients with SAMHD1 mutation indicate its important roles in immunoregulation and cerebral vascular hemeostasis...
  4. ncbi Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation
    Baozhong Xin
    DDC Clinic for Special Needs Children, Middlefield, OH 44062, USA
    Proc Natl Acad Sci U S A 107:258-63. 2010
    ..This report shows a TMCO1 sequence variant being associated with a genetic disorder in human. We propose "TMCO1 defect syndrome" as the name of this condition...
  5. ncbi Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy
    Baozhong Xin
    Das Deutsch Center Clinic for Special Needs Children, Middlefield, Ohio 44062, USA
    Am J Med Genet A 143:2662-7. 2007
    ..It is also concerning that many unidentified heterozygous individuals who are at risk for development of hypertrophic cardiomyopathy do not receive proper medical attention in the communities...
  6. ncbi [Fine mapping of susceptibility genes loci within chromosome 1 in Chinese Han families with type 2 diabetes]
    Wei-Nan Du
    National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, CAMS and PUMC, Beijing 100005, China
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao 24:234-7. 2002
    ..The fact that all 5 loci at the P terminal region displayed linkage with diabetes suggests that more than 1 susceptibility gene may reside in this region...
  7. ncbi Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?
    Joanna C Bakowska
    Cellular Neurology Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892 3704, USA
    Arch Neurol 65:520-4. 2008
    ..This mutation is predicted to cause premature termination of the spartin protein. However, it remains unknown whether this truncated spartin protein is absent or is present and partially functional in patients...
  8. ncbi Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features
    Mehryar Taban
    Department of Pediatric Ophthalmology and the Center for Genetic Eye Diseases, Cole Eye Institute, The Cleveland Clinic Foundation, Cleveland, OH 44195, USA
    J AAPOS 11:431-7. 2007
    ..To review the clinical features of reported cases of Cohen syndrome with a focus on ophthalmic features and report nine new cases...
  9. ncbi Etiology of vision loss in ganglioside GM3 synthase deficiency
    Fahhad Farukhi
    Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
    Ophthalmic Genet 27:89-91. 2006
    ..CONCLUSIONS: Vision loss in GM3 synthase deficiency results from central nervous system and optic nerve involvement. Retinal function appears to be otherwise normal into the teenage years...
  10. ncbi [Single nucleotide polymorphisms in CAPN10 gene of Chinese population and its correlation with type 2 diabetes mellitus in Han people of northern China]
    Hong xia Sun
    National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, CAMS and PUMC, Beijing 100005, China
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao 24:228-33. 2002
    ..To investigate the distribution of the single nucleotide polymorphisms (SNPs) in CAPN10 gene in Chinese population and their relation with type 2 diabetes mellitus in Han people of Northern China...
  11. ncbi Prolidase deficiency and the biochemical assays used in its diagnosis
    Biji T Kurien
    Arthritis and Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA
    Anal Biochem 349:165-75. 2006
  12. ncbi Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase
    Michael A Simpson
    Department of Medical Genetics, St George s Hospital Medical School, University of London, Cranmer Terrace, London SW17 0RE, UK
    Nat Genet 36:1225-9. 2004
    ....
  13. ncbi Determination of prolidase activity using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry
    Biji T Kurien
    Arthritis and Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA
    Anal Biochem 331:224-9. 2004
    ..Using this method we have unambiguously identified subjects with homozygous or heterozygous prolidase deficiency. In addition to the advantage of rapid sample preparation time, this method is highly specific, reproducible, and sensitive...
  14. ncbi [Linkage disequilibrium analysis of the single nucleotide polymorphisms in the PRKCZ gene]
    Hong xia Sun
    National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, CAMS, PUMC, Beijing 100005, China
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao 24:474-80. 2002
    ....
  15. ncbi [Functional analysis of the single nucleotide polymorphisms in the PRKCZ gene]
    Hong-Xia Sun
    National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, CAMS, PUMC, Beijing 100005, China
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao 24:471-3. 2002
    ..Two SNPs in the gene play a role in the pathogenesis of the disease by affecting the expression level of PRKCZ gene...
  16. ncbi [The association of two single nucleotide polymorphisms in PRKCZ and UTS2 respectively with type 2 diabetes in Han people of northern China]
    Hong xia Sun
    National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, CAMS and PUMC, Beijing 100005, China
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao 24:223-7. 2002
    ..To probe the candidate susceptibility gene (s) of type 2 diabetes in the formal mapping region, 1p36.33-p36.23, in Han people of Northern China using single nucleotide polymorphisms (SNPs)...