Novel genetic cause of idiopathic short stature

강민재 2017년
논문상세정보
    • 저자 강민재
    • 제어번호 104940407
    • 학술지명 Annals of Pediatirc Endocrinology & Metabolism
    • 권호사항 Vol. 22 No. 3 [ 2017 ]
    • 발행처 대한소아내분비학회
    • 발행처 URL http://www.kspendo.or.kr
    • 자료유형 학술저널
    • 수록면 153-157
    • 언어 English
    • 출판년도 2017
    • 등재정보 KCI등재
    • 판매처
    유사주제 논문( 0)

' Novel genetic cause of idiopathic short stature' 의 참고문헌

  • Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure
    Hwa V J Clin Endocrinol Metab 91 1826-1831 [2006]
  • The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis
    Malaquias AC Horm Res Paediatr 80 449-456 [2013]
  • The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome
    Clement-Jones M Hum Mol Genet 9 695-702 [2000]
  • The role of the SHOX gene in the pathophysiology of Turner syndrome
    Oliveira CS Endocrinol Nutr 58 433-442 [2011]
  • The role of aggrecan in normal and osteoarthritic cartilage
    Roughley PJ J Exp Orthop 1 8- [2014]
  • The acidlabile subunit (ALS) of the 150 kDa IGF-binding protein complex: an important but forgotten component of the circulating IGF system
    Boisclair YR J Endocrinol 170 63-70 [2001]
  • Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri- Weill dyschondrosteosis
    Shima H J Hum Genet 61 585-591 [2016]
  • Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations
    Nilsson O J Clin Endocrinol Metab 99 E1510-E1518 [2014]
  • Short stature due to SHOX deficiency: genotype, phenotype, and therapy
    Binder G Horm Res Paediatr 75 81-89 [2011]
  • Short and tall stature: a new paradigm emerges
    Baron J Nat Rev Endocrinol 11 735-746 [2015]
  • SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability
    Jorge AA Clin Endocrinol (Oxf) 66 130-135 [2007]
  • Role of the natriuretic peptide system in normal growth and growth disorders
    Vasques GA Horm Res Paediatr 82 222-229 [2014]
  • Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia
    Martínez-Frías ML Am J Med Genet A 152A 245-255 [2010]
  • Relationship between serum growth hormone binding protein levels and height in young men
    Codner E J Pediatr Endocrinol Metab 13 887-892 [2000]
  • Regular fluctuations in growth hormone (GH) release determine normal human growth
    Gill MS Growth Horm IGF Res 9 114-122 [1999]
  • Reduced concentration of serum growth hormone-binding protein in children with idiopathic short stature. National Cooperative Growth Study
    Carlsson LM J Clin Endocrinol Metab 78 1325-1330 [1994]
  • Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
    Rao E Nat Genet 16 54-63 [1997]
  • Prevalence of mutations in the FGFR3 gene in individuals with idiopathic short stature
    Mamada M Clin Pediatr Endocrinol 15 61-64 [2006]
  • PHOG, a candidate gene for involvement in the short stature of Turner syndrome
    Ellison JW Hum Mol Genet 6 1341-1347 [1997]
  • Novel pathogenic ACAN variants in non-syndromic short stature patients
    Hu X Clin Chim Acta 469 126-129 [2017]
  • New genetic diagnoses of short stature provide insights into local regulation of childhood growth
    Andrade AC Horm Res Paediatr 88 22-37 [2017]
  • Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group
    Goddard AD N Engl J Med 333 1093-1098 [1995]
  • Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux
    Bartels CF Am J Hum Genet 75 27-34 [2004]
  • Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia
    Rousseau F Nature 371 252-254 [1994]
  • Mutations in the fibroblast growth factor receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia
    Mancilla EE Rev Med Chil 131 1405-1410 [2003]
  • Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature
    Alfonso Hisado-Oliva Genetics in Medicine 20 1 91-97 [2017]
  • Mechanisms in endocrinology: novel genetic causes of short stature
    Wit JM Eur J Endocrinol 174 R145-R173 [2016]
  • Ligand-mediated immunofunctional assay for quantitation of growth hormone-binding protein in human blood
    Carlsson LM J Clin Endocrinol Metab 73 1216-1223 [1991]
  • Interaction of fibroblast growth factor and C-natriuretic peptide signaling in regulation of chondrocyte proliferation and extracellular matrix homeostasis
    Krejci P J Cell Sci 118 Pt 21 5089-5100 [2005]
  • Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene
    Quintos JB J Pediatr Endocrinol Metab 28 927-932 [2015]
  • Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature
    Benito-Sanz S Eur J Hum Genet 20 125-127 [2012]
  • Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation
    Dateki S J Hum Genet 62 717-721 [2017]
  • Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature
    Amano N J Clin Endocrinol Metab 99 E713-E718 [2014]
  • Homozygous and heterozygous expression of a novel mutation of the acidlabile subunit
    van Duyvenvoorde HA Eur J Endocrinol 159 113-120 [2008]
  • Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature
    Vasques GA J Clin Endocrinol Metab 98 E1636-E1644 [2013]
  • Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature
    Wang SR Hum Mutat 36 474-481 [2015]
  • Heterozygous NPR2 mutations cause disproportionate short stature, similar to Léri-Weill dyschondrosteosis
    Hisado-Oliva A J Clin Endocrinol Metab 100 E1133-E1142 [2015]
  • Growth hormone-binding protein levels: studies of children with short stature
    Mauras N Metabolism 43 357-359 [1994]
  • Growth hormone (GH) insensitivity due to primary GH receptor deficiency
    Rosenfeld RG Endocr Rev 15 369-390 [1994]
  • FGF signaling in the osteoprogenitor lineage nonautonomously regulates postnatal chondrocyte proliferation and skeletal growth
    Karuppaiah K Development 143 1811-1822 [2016]
  • Evidence for partial growth hormone insensitivity among patients with idiopathic short stature. The National Cooperative Growth Study
    Attie KM J Pediatr 127 244-250 [1995]
  • Controversy in clinical endocrinology: problems with reclassification of insulin-like growth factor I production and action disorders
    Cohen P J Clin Endocrinol Metab 91 4235-4236 [2006]
  • Complete SHOX deficiency causes Langer mesomelic dysplasia
    Zinn AR Am J Med Genet 110 158-163 [2002]
  • Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia
    Bonaventure J Acta Paediatr Suppl 417 33-38 [1996]
  • C-type natriuretic peptide in growth: a new paradigm
    Olney RC Growth Horm IGF Res 16 Suppl A S6-S14 [2006]
  • A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan
    Tompson SW Am J Hum Genet 84 72-79 [2009]
  • A novel variant of FGFR3 causes proportionate short stature
    Kant SG Eur J Endocrinol 172 763-770 [2015]
  • A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis
    Gleghorn L Am J Hum Genet 77 484-490 [2005]