• Disease
  • Pompe
  • Pompe Disease
  • Pei‐hsin Huang

    Prominent publications by Pei‐Hsin Huang

    KOL Index score: 12244

    OBJECTIVE: Pompe disease is an autosomal recessive lysosomal storage disorder that is caused by deficient acid alpha-glucosidase activity and results in progressive, debilitating, and often life-threatening symptoms involving the musculoskeletal, respiratory, and cardiac systems. Recently, enzyme replacement therapy with alglucosidase alpha has become possible, but the best outcomes in motor function have been achieved when treatment was initiated early. The aim of this study was to test ...

    Also Ranks for: Pompe Disease |  newborn screening |  early detection |  earlier diagnosis |  dried blood spots
    KOL Index score: 11528

    The key gluconeogenic enzyme, fructose-1,6-bisphosphatase (FBPase), is induced when Saccharomyces cerevisiae are starved of glucose. FBPase is targeted from the cytosol to the yeast vacuole for degradation when glucose-starved cells are replenished with fresh glucose. Several vid mutants defective in the glucose-induced degradation of FBPase in the vacuole have been isolated. In some vid mutants, FBPase is found in punctate structures in the cytoplasm. When extracts from these cells are ...

    Also Ranks for: Fbpase Vesicles |  intracellular structures |  wildtype cells |  yeast vacuole |  degradation glucose
    KOL Index score: 11174

    Lymphangioma has long been thought of as congenital malformations resulting from the failure of lymphatic vessels communicating with the venous system in the fetal period. Alternatively, it is proposed to be true neoplasm originated from the transformation of lymphatic endothelia. To extend the molecular basis of the pathogenesis of lymphangioma, we have characterized the expression of vascular endothelial growth factor (VEGF) and VEGF receptors (VEGFR) in 29 cases of lymphangioma by RNA ...

    Also Ranks for: Endothelial Cells |  vegfr3 vegfr2 |  growth factor |  expression vegfc |  receptors vascular
    KOL Index score: 10532

    Lymphomas involving the nasal and nasopharyngeal region mainly include CD56-positive natural killer (NK)/T-cell lymphomas, CD56-negative peripheral T-cell lymphomas (PTL), and B-cell lymphomas. Among these, the CD56-positive lymphoma, presumably of an NK/T-cell nature, is frequently seen in Asian, Mexican, and South American patients. NK cells are proposed to be closer developmentally to T cells than to other lymphoid cells, because bipotential common progenitor cells of NK/T-cell ...

    Also Ranks for: Cell Lymphoma |  dependent kinase |  6 cdk6 |  gene rearrangement |  natural killer
    KOL Index score: 10229

    OBJECTIVE: Pompe disease causes progressive, debilitating, and often life-threatening musculoskeletal, respiratory, and cardiac symptoms. Favorable outcomes with early intravenous enzyme-replacement therapy and alglucosidase alfa have been reported, but early clinical diagnosis before the development of severe symptoms has rarely been possible in infants.

    METHODS: We recently conducted a newborn screening pilot program in Taiwan to improve the early detection of Pompe disease. Six of ...

    Also Ranks for: Pompe Disease |  newborn screening |  early treatment |  muscle pathology |  alglucosidase alfa
    KOL Index score: 8808

    To examine the role of placenta growth factor (PlGF) in the pathogenesis of pulmonary emphysema, we generated PlGF-transgenic (TG) mice using a phosphoglycerate kinase promoter. This resulted in constitutive overexpression of PlGF. In these TG mice, pulmonary emphysema, with enlarged air spaces and enhanced pulmonary compliance, first appeared at 6 months of age and became prominent at 12 months. Increased alveolar septal cell apoptosis was noted in their lungs. Fluorescence-activated ...

    Also Ranks for: Pulmonary Emphysema |  growth factor |  plgf pathogenesis |  endothelial cell |  type pneumocytes
    KOL Index score: 8447

    BHLH-zip proteins usually play important regulatory roles in cell growth and differentiation. In this study, we show that Spz1, a bHLH-zip transcription factor, acts downstream of mitogen-activated protein kinase (MAPK, extracellular signal-regulated kinase 1/2) to up-regulate cell proliferation and tumorigenesis. In addition, through an interaction with proliferating cell nuclear antigen (PCNA) promoter, Spz1 induced cell proliferation concomitant with an increase in PCNA gene ...

    Also Ranks for: Cell Proliferation |  inbred balb mice |  protein kinase |  spz1 expression |  transcription factors
    KOL Index score: 7784

    The class 3 Semaphorins Sema3A and Sema3F are potent axonal repellents that cause repulsion by binding Neuropilin-1 and Neuropilin-2, respectively. Plexins are implicated as signaling coreceptors for the Neuropilins, but the identity of the Plexins that transduce Sema3A and Sema3F responses in vivo is uncertain. Here, we show that Plexin-A3 and -A4 are key determinants of these responses, through analysis of a Plexin-A3/Plexin-A4 double mutant mouse. Sensory and sympathetic neurons from ...

    Also Ranks for: 3 Semaphorins |  messenger receptors |  sympathetic neurons |  neuropilin1 neuropilin2 |  proteins mice
    KOL Index score: 7644

    BackgroundNew-onset diabetes mellitus (DM) is associated with pancreatic ductal cell adenocarcinoma (PDCA) and can resolve after pancreaticoduodenectomy (PD). Whether DM also resolves after PD in patients operated for disease other than PDCA remains to be determined.MethodsWe compared glycemic status before and after PD between patients with and without PDCA by review of a prospectively maintained database including all patients receiving PD from 2005 to 2011. New-onset DM was defined as ...

    Also Ranks for: Patients Dm |  pancreatic ductal |  cell adenocarcinoma |  resolution diabetes |  glycemic status
    KOL Index score: 7387

    Cancer cells often employ developmental cues for advantageous growth and metastasis. Here, we report that an axon guidance molecule, Sema3E, is highly expressed in human high-grade ovarian endometrioid carcinoma, but not low-grade or other ovarian epithelial tumors, and facilitates tumor progression. Unlike its known angiogenic activity, Sema3E acted through Plexin-D1 receptors to augment cell migratory ability and concomitant epithelial-to-mesenchymal transition (EMT). Sema3E-induced ...

    Also Ranks for: Mesenchymal Transition |  neoplastic humans |  tumor cells |  neuronal cell |  plexin d1
    KOL Index score: 7373

    BACKGROUND & AIMS: Mcl-1-deficient hepatocytes are prone to undergo apoptosis. The tumor suppressor protein p53 plays an important role in apoptosis control as well as other cellular responses. This study was initially aimed to examine whether p53 was involved in Mcl-1 deficiency-induced apoptosis of hepatocytes.

    METHODS: Hepatocyte-specific Mcl-1 knockout (Alb-Mcl-1(-/-)) mice and Alb-Mcl-1(-/-) mice in wild-type or p53-deficient background were generated and characterized.

    RESULTS: ...

    Also Ranks for: Hepatic Injury |  p53 mcl1 |  liver neoplasms |  apoptosis hepatocytes |  tumor suppressor
    KOL Index score: 7337

    Caveolin-1 was up-regulated in different drug-resistant cancer cell lines and was suggested to confer drug resistance by different mechanisms. However, the relation of caveolin-1 expression and the clinical response to chemotherapy and prognosis in non-small cell lung cancer (NSCLC) remains unknown. Total 73 NSCLC (stages IIIB and IV) patients who received gemcitabine-based chemotherapy and also had tumour specimens available before treatment were assessed for caveolin-1 expression using ...

    Also Ranks for: Cell Lung |  chemotherapy patients |  caveolin1 expression |  cancer nsclc |  resistance neoplasm
    KOL Index score: 7288

    Mucins play a key role in tumorigenesis. MUC15 is a membrane-bound mucin and the MUC15 messenger RNA (mRNA) has been detected in various organs. However, its role in tumor malignancy is still unclear. This study was to investigate the MUC15 expression in colorectal tumors and the role of MUC15 in colon cancer cells. We found that the mRNA expression of MUC15 was significantly higher in 70.8% (51/72) of colorectal tumors compared with their normal counterparts by real-time reverse ...

    Also Ranks for: Cancer Cells |  muc15 expression |  cell proliferation |  inbred balb mice |  human colon
    KOL Index score: 7259

    Gastric cancer of youth is predominantly a disease of women, usually of the signet-ring cell subtype, with a predilection for metastasizing to the ovaries. The metastatic ovarian tumor is named a Krukenberg tumor. However, the characteristic genetic alterations between the primary gastric cancer and its metastatic ovarian tumor have not been studied. We used laser capture microdissection to procure tissues from 7 patients with gastric cancer who had ovarian metastases (Krukenberg tumor) ...

    Also Ranks for: Gastric Cancer |  fhit expression |  ring cell |  krukenberg tumor |  ovarian neoplasms
    KOL Index score: 7254

    During development, the semaphorin family of guidance molecules is required for proper formation of the sympathetic nervous system. Plexins are receptors that mediate semaphorin signaling, but how plexins function during sympathetic development is not fully understood. Using phenotypic analyses of mutant mice in vivo, expression pattern studies, and in vitro assays, we show that plexin-A3 and plexin-A4 are essential for normal sympathetic development. This study confirms our previous in ...

    Also Ranks for: Sympathetic Neurons |  neural crest |  plexina3 plexina4 |  cell surface |  mutant mice


    Pei‐Hsin Huang: Influence Statistics

    Sample of concepts for which Pei‐Hsin Huang is among the top experts in the world.
    Concept World rank
    harl5q80l #2
    harl5q80l mirlike motif #2
    hp1alpha harl5 #2
    regulated arl5 #2
    mirlike motif harl5q80l #2
    harl5q80l harl5 #2
    nucleoli heterochromatin protein #2
    harl5q80l hp1alpha #2
    interacted heterochromatin #2
    harl5 interaction hp1alpha #2
    hp1alpha harl5 interaction #2
    harl5 #2
    mutant harl5t35n #2
    nuclei harl5 #2
    amino acid arf #2
    mirlike motif #2
    arl5 localized #2
    harl5 arf #2
    harl5 interaction #2
    harl5 interacted #2
    motif harl5q80l #2
    cells harl5q80l #2
    harl5q80l predicted #2
    functional blockage neuropilin #3
    spanning expression #3
    suggesting fbpase #3
    semaphorin cleft formation #3
    npn1dependent morphogenesis #3
    armsknockdown #3
    npn1 smg #3
    normal sympathetic development #3
    arms contributes #3
    sympathetic nervous plexins #3
    stronger immunointensity #3
    sympathetic neurons plexins #3
    smg cleft #3
    migration sympathetic neurons #3
    plexins differentially #3
    plexina3 double mutants #3
    vesicles fbpase #3
    smg cleft formation #3
    semaphorins proliferation #3
    studies plexins #3
    vitro findings plexins #3
    marl5 #3
    semaphorin plexina3 #3
    cell surface plexina3 #3
    arms melanoma progression #3
    melanoma immunointensity #3
    glands semaphorin3a #3

    Key People For Pompe Disease

    Top KOLs in the world
    Ans Tjitske Van der Ploeg
    pompe disease alglucosidase alfa enzyme replacement therapy
    Priya Sunil Kishnani
    pompe disease alglucosidase alfa enzyme replacement therapy
    Arnold J J Reuser
    pompe disease glycogen storage enzyme replacement therapy
    Wuh‐Liang Hwu
    pompe disease newborn screening taiwanese patients
    Marian A Kroos
    pompe disease glycogenosis type glycogen storage
    A J J Reuser
    pompe disease glycogenosis type enzyme therapy

    Pei‐Hsin Huang:Expert Impact

    Concepts for whichPei‐Hsin Huanghas direct influence:Pompe disease,  Newborn screening,  Pulmonary emphysema,  Sympathetic neurons,  Early treatment,  Cleft formation,  Heterochromatin protein,  Fbpase vesicles.

    Pei‐Hsin Huang:KOL impact

    Concepts related to the work of other authors for whichfor which Pei‐Hsin Huang has influence:Pompe disease,  Newborn screening,  Pancreatic cancer,  Lysosomal storage disorders,  Cell migration,  Growth factor,  Enzyme replacement therapy.



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    Department of Pathology, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, 10051, Taiwan | College of Medicine, Graduate Institute of Pathology, National Taiwan University, Taipei, 10617, Taiwan | Depart