Y Wang

Publications (12)97.87 Total impact

• Source

  Available from: vnu.edu.vn

  Article: The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US.

  D K Waller, A Correa, Tuan M Vo, Y Wang, C Hobbs, P H Langlois, K Pearson, P A Romitti, G M Shaw, J T Hecht
  [show abstract] [hide abstract]
  ABSTRACT: There have been no large population-based studies of the prevalence of achondroplasia and thanatophroic dysplasia in the United States. This study compared data from seven population-based birth defects monitoring programs in the United States. We also present data on the association between older paternal age and these birth defects, which has been described in earlier studies. The prevalence of achondroplasia ranged from 0.36 to 0.60 per 10,000 livebirths (1/27,780-1/16,670 livebirths). The prevalence of thanatophoric dysplasia ranged from 0.21 to 0.30 per 10,000 livebirths (1/33,330-1/47,620 livebirths). In Texas, fathers that were 25-29, 30-34, 35-39, and > or =40 years of age had significantly increased rates of de novo achondroplasia among their offspring compared with younger fathers. The adjusted prevalence odds ratios were 2.8 (95% CI; 1.2, 6.7), 2.8 (95% CI; 1.0, 7.6), 4.9 (95% CI; 1.7, 14.3), and 5.0 (95% CI; 1.5, 16.1), respectively. Using the same age categories, the crude prevalence odds ratios for de novo cases of thanatophoric dysplasia in Texas were 5.8 (95% CI; 1.7, 9.8), 3.9 (95% CI; 1.1, 6.7), 6.1 (95% CI; 1.6, 10.6), and 10.2 (95% CI; 2.6, 17.8), respectively. These data suggest that thanatophoric dysplasia is one-third to one-half as frequent as achondroplasia. The differences in the prevalence of these conditions across monitoring programs were consistent with random fluctuation. Birth defects monitoring programs may be a good source of ascertainment for population-based studies of achondroplasia and thanatophoric dysplasia, provided that diagnoses are confirmed by review of medical records.
  American Journal of Medical Genetics Part A 09/2008; 146A(18):2385-9. · 2.39 Impact Factor
• Article: A Study of the Metal Carbide-Carbon Peritectic Phase Transition for the Cr-C System

  Y. Yamada, Y. Wang, W. Zheng, N. Sasajima
  [show abstract] [hide abstract]
  ABSTRACT: The authors recently reported the very first radiometric plateau observation of high-temperature fixed points of metal-carbide carbon peritectics. These act in a similar way to the metal (carbide)-carbon eutectic points in the sense that they can be used at high temperature without being contaminated by their graphite crucibles. The performance seems similar in terms of repeatability and plateau shape. The peritectic transition temperatures are close to the transition temperatures of some of the metal (carbide)-carbon eutectics. In this article, results of further study to understand the melting and freezing involved in these fixed points are reported, with the focus on the Cr3C2-C peritectic point. Difficulty in producing an ingot without voids was encountered. To overcome this, a filling technique that takes advantage of the capillary effect was devised. Plateau shapes and microstructures observed with electron-probe microanalysis (EPMA) and back-scattered electron imaging (BSE) for various filling methods were compared. The observation of two fixed-point plateaux, one at the Cr3C2-C peritectic point and the other at a lower temperature of the Cr7C3-Cr3C2 eutectic point, correlates to the presence of two kinds of domains in the observed microstructure. The graphite crucible is shown to play an essential role in realizing peritectic plateaux of good quality.
  International Journal of Thermophysics 11/2007; 28(6):2028-2040. · 0.95 Impact Factor
• Article: The effect of the eutectic structure and the residual effect of impurities on the uncertainty in the eutectic temperatures of Fe–C and Co–C

  P Bloembergen, Y Yamada, N Sasajima, Y Wang, T Wang
  [show abstract] [hide abstract]
  ABSTRACT: This paper deals with the evaluation of the uncertainty in the equilibrium value of the eutectic temperature of the eutectic systems Fe–C and Co–C in their pure state. The first step towards this is deriving the equilibrium value of the liquidus temperature of the actual impure system and its associated uncertainty, the second estimating the uncertainty in the correction for the effect of impurities. The derivation of liquidus temperature and its uncertainty from the observed melting behaviour forms the core of this study. It involves the extrapolation of the measured melting plateaus, obtained at finite growth rates of the preceding freezes, towards the plateau related to zero growth rate, i.e. to the state of structural thermodynamic equilibrium. The uncertainty in the correction for the effect of impurities will be evaluated by means of 'the sum of individual estimates' and 'the overall maximum estimate', earlier shown to be applicable to eutectic systems.
  Metrologia 09/2007; 44(5):279. · 1.75 Impact Factor
• Article: Metal carbide-carbon peritectic systems as high-temperature fixed points in thermometry

  Y Yamada, Y Wang, N Sasajima
  [show abstract] [hide abstract]
  ABSTRACT: WC–C, Cr3C2–C and Mn7C3–C peritectic systems were investigated for their potential of serving as high-temperature reference points in thermometry. Mixtures of high-purity graphite powder with W, Cr and Mn powder of 99.99%, 99.9% and 99.95% purity by mass, respectively, were placed in graphite blackbody crucibles and melting/freezing plateaus were observed by means of a radiation thermometer. The observed melting temperatures were 2749 °C (WC–C), 1826 °C (Cr3C2–C) and 1331 °C (Mn7C3–C), with a repeatability—in each case—of 0.02 K. The melting range for WC–C and Cr3C2–C peritectics was roughly 0.1 K. WC–C showed a flat freezing plateau that agreed with the melting plateau within the repeatability. The three fixed points are possible candidates, like the metal (carbide)–carbon eutectic fixed points, in the realization of an improved high-temperature scale above the copper point.
  Metrologia 09/2006; 43(5):L23. · 1.75 Impact Factor
• Article: Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.

  J T Hecht, D Hogue, Y Wang, S H Blanton, M Wagner, L C Strong, W Raskind, M F Hansen, D Wells
  [show abstract] [hide abstract]
  ABSTRACT: Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the formation of cartilage-capped prominences that develop from the growth centers of the long bones. EXT is genetically heterogeneous, with three loci, currently identified on chromosomes 8q24.1, 11p13, and 19q. The EXT1 gene, located on chromosome 8q24.1, has been cloned and is encoded by a 3.4-kb cDNA. Five mutations in the EXT1 gene have been identified--four germ-line mutations, including two unrelated families with the same mutation, and one somatic mutation in a patient with chondrosarcoma. Four of the mutations identified resulted in frameshifts and premature termination codons, while the fifth mutation resulted in a substitution of leucine for arginine. Loss of heterozygosity (LOH) analysis of chondrosarcomas and chondroblastomas revealed multiple LOH events at loci on chromosomes 3q, 8q, 10q, and 19q. One sporadic chondrosarcoma demonstrated LOH for EXT1 and EXT3, while a second underwent LOH for EXT2 and chromosome 10. A third chondrosarcoma underwent LOH for EXT1 and chromosome 3q. These results agree with previous findings that mutations at EXT1 and multiple genetic events that include LOH at other loci may be required for the development of chondrosarcoma.
  The American Journal of Human Genetics 02/1997; 60(1):80-6. · 10.60 Impact Factor
• Article: Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia.

  J T Hecht, L D Nelson, E Crowder, Y Wang, F F Elder, W R Harrison, C A Francomano, C K Prange, G G Lennon, M Deere
  [show abstract] [hide abstract]
  ABSTRACT: Pseudoachondroplasia (PSACH) is a well characterized dwarfing condition mapping to chromosome 19p12-13.1. Cartilage oligomeric matrix protein (COMP), a cartilage specific protein, maps to the same location within a contig that spans the PSACH locus. Using single strand conformation polymorphism (SSCP) analysis and nucleotide sequencing we have identified COMP mutations in eight familial and isolated PSACH cases. All mutations involve either a single base-pair change or a three base-pair deletion in exon 17B. Six mutations delete or change a well conserved aspartic acid residue within the calcium-binding type 3 repeats. These results demonstrate that mutations in the COMP gene cause pseudochondroplasia.
  Nature Genetics 08/1995; 10(3):325-9. · 35.53 Impact Factor
• Source

  Available from: nih.gov

  Article: Nonsyndromic cleft lip and palate: no evidence of linkage to HLA or factor 13A.

  J T Hecht, Y Wang, B Connor, S H Blanton, S P Daiger
  [show abstract] [hide abstract]
  ABSTRACT: Nonsyndromic cleft lip with or without cleft palate (CLP) is a common craniofacial anomaly, the etiology of which is not known. Population studies have shown that a large proportion of cases occur sporadically. Recently, segregation analyses applied to CLP families have demonstrated that an autosomal dominant/codominant gene(s) may cause clefting in cases. Associations of autosomal dominant CLP and nonsyndromic cleft palate (CP) with HLA and F13A genes on chromosome 6p have been suggested previously. Linkage to these two areas on chromosome 6p were tested in 12 autosomal dominant families with CLP. With a LOD score of -2 or less for exclusion, no evidence of linkage was found to four chromosome 6p markers. Multipoint analysis showed no evidence of a clefting locus in this region spanning 54 cM on chromosome 6p in these CLP families.
  The American Journal of Human Genetics 07/1993; 52(6):1230-3. · 10.60 Impact Factor
• Article: Polymorphic dinucleotide repeat in a cartilage matrix protein (CRTM) gene.

  Y Wang, L Sadler, J T Hecht
  Human Molecular Genetics 01/1993; 1(9):780. · 7.64 Impact Factor
• Article: Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia.

  J T Hecht, S H Blanton, Y Wang, S P Daiger, W A Horton, C Rhodes, Y Yamada, C A Francomano
  [show abstract] [hide abstract]
  ABSTRACT: Patients with pseudoachondroplasia have a skeletal dysplasia with marked short stature. The most common cause of this condition is an autosomal dominant mutation, although autosomal recessive inheritance has been reported. Linkage to 2 cartilage-specific candidate genes, type II collagen (COL2A1) and proteoglycan link protein genes (CRTL1), was tested in 9 autosomal dominant families with pseudoachondroplasia. Tight linkage to these candidate genes was excluded with LOD scores for COL2A1 of -2.45 at theta = 0.05 and for CRTL1 of -7.28 at theta = 0.001. Discordant inheritance of the disease phenotype with each of these genes was also observed. Thus, these 2 candidate genes can be excluded as the cause of disease in these families.
  American Journal of Medical Genetics 12/1992; 44(4):420-4.
• Source

  Available from: nih.gov

  Article: Van der Woude syndrome and nonsyndromic cleft lip and palate.

  J T Hecht, Y Wang, S H Blanton, S P Daiger
  The American Journal of Human Genetics 09/1992; 51(2):442-4. · 10.60 Impact Factor
• Source

  Available from: ncbi.nlm.nih.gov

  Article: TaqI and HaeIII RFLP polymorphisms in human proteoglycan link gene (CRTL1).

  J T Hecht, Y Wang, C Rhodes, Y Yamada
  Nucleic Acids Research 01/1992; 19(23):6666. · 8.03 Impact Factor
• Source

  Available from: ncbi.nlm.nih.gov

  Article: GT repeat polymorphism in the human proteoglycan link gene (CRTL1) promoter region.

  J T Hecht, Y Wang, C Rhodes, Y Yamada
  Nucleic Acids Research 01/1992; 19(23):6666. · 8.03 Impact Factor