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Academic Journal

Pulmonary Arterial Hypertension Due to NPR-C Mutation: A Novel Paradigm for Normal and Pathologic Remodeling?

  • Authors : Egom EE; St Martha's Regional Hospital, Dalhousie University, Antigonish, B2G 2G7 NS, Canada. .

Subjects: Mutation* ; Signal Transduction*; Familial Primary Pulmonary Hypertension/Familial Primary Pulmonary Hypertension/Familial Primary Pulmonary Hypertension/*genetics

  • Source: International journal of molecular sciences [Int J Mol Sci] 2019 Jun 22; Vol. 20 (12). Date of Electronic Publication: 2019 Jun 22.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

NPR2 gene variants in familial short stature: a single-center study.

  • Authors : Yuan K; Department of Pediatrics, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang Province, China.; Chen J

Subjects: Mutation*; Body Height/Body Height/Body Height/*genetics ; Growth Disorders/Growth Disorders/Growth Disorders/*genetics

  • Source: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2021 Sep 27; Vol. 35 (2), pp. 185-190. Date of Electronic Publication: 2021 Sep 27 (Print Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Electronic-Print Cited Medium: Internet ISSN:

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Academic Journal

Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants.

  • Authors : Kılıç E; Department of Pediatric Genetics, University of Health Sciences, Ankara City Hospital, Ankara, Turkey.; Üniversiteler Mahallesi, 1604, Cadde No: 9, 06800 Çankaya/Ankara, Turkey.

Subjects: Mutation* ; Phenotype*; Bone Diseases, Developmental/Bone Diseases, Developmental/Bone Diseases, Developmental/*genetics Acromesomelic dysplasia, Maroteaux type

  • Source: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2021 Jun 24; Vol. 34 (9), pp. 1115-1121. Date of Electronic Publication: 2021 Jun 24 (Print Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Electronic-Print Cited Medium: Internet ISSN:

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Academic Journal

Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux.

  • Authors : Irfanullah; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Pakistan; Department of Chemistry, Shaheed Benazir Bhutto University, Sheringal, Upper Dir, Pakistan.

Subjects: Computer Simulation* ; Homozygote* ; Mutation* Acromesomelic dysplasia

  • Source: The international journal of biochemistry & cell biology [Int J Biochem Cell Biol] 2018 Sep; Vol. 102, pp. 76-86. Date of Electronic Publication: 2018 Jul 18.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 9508482 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Clinical Characteristics of Short-Stature Patients With an NPR2 Mutation and the Therapeutic Response to rhGH.

  • Authors : Ke X; Key Laboratory of Endocrinology of National Health Commission, State Key Laboratory of Complex Severe and Rare Diseases, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100730, China.; Liang H

Subjects: Mutation*; Dwarfism/Dwarfism/Dwarfism/*drug therapy ; Human Growth Hormone/Human Growth Hormone/Human Growth Hormone/*administration & dosage

  • Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2021 Jan 23; Vol. 106 (2), pp. 431-441.Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Natriuretic Peptide Expression and Function in GH3 Somatolactotropes and Feline Somatotrope Pituitary Tumours.

  • Authors : Mirczuk SM; Endocrine Signalling Group, Royal Veterinary College, University of London, Royal College Street, London NW1 0TU, UK.; Comparative Biomedical Sciences, Royal Veterinary College, University of London, Royal College Street, London NW1 0TU, UK.

Subjects: Mutation*; Natriuretic Peptide, C-Type/Natriuretic Peptide, C-Type/Natriuretic Peptide, C-Type/*metabolism ; Pituitary Neoplasms/Pituitary Neoplasms/Pituitary Neoplasms/*metabolism

  • Source: International journal of molecular sciences [Int J Mol Sci] 2021 Jan 22; Vol. 22 (3). Date of Electronic Publication: 2021 Jan 22.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Familial hypophosphatemic rickets caused by a PHEX gene mutation accompanied by a NPR2 missense mutation.

  • Authors : Zhao Y; Department of Endocrinology, The Second Affiliated Hospital of Harbin Medical University, Harbin, P.R. China.; Yang F

Subjects: Mutation*; Asian People/Asian People/Asian People/*genetics ; Familial Hypophosphatemic Rickets/Familial Hypophosphatemic Rickets/Familial Hypophosphatemic Rickets/*etiology

  • Source: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2020 Feb 25; Vol. 33 (2), pp. 305-311.Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Print Cited Medium: Internet ISSN: 2191-0251

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Academic Journal

Skeletal overgrowth-causing mutations mimic an allosterically activated conformation of guanylyl cyclase-B that is inhibited by 2,4,6,-trinitrophenyl ATP.

  • Authors : Dickey DM; From the Department of Biochemistry, Molecular Biology, and Biophysics and.; Otto NM

Subjects: Models, Molecular* ; Mutation*; Adenosine Triphosphate/Adenosine Triphosphate/Adenosine Triphosphate/*analogs & derivatives

  • Source: The Journal of biological chemistry [J Biol Chem] 2017 Jun 16; Vol. 292 (24), pp. 10220-10229. Date of Electronic Publication: 2017 Apr 27.Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication

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Academic Journal

Acromesomelic dysplasia Maroteaux-type in patients from Vietnam.

  • Authors : Tran TH; Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam.; Department of Biochemistry, Hanoi Medical University Hospital, Hanoi, Vietnam.

Subjects: Mutation*; Bone Diseases, Developmental/Bone Diseases, Developmental/Bone Diseases, Developmental/*genetics ; Bone and Bones/Bone and Bones/Bone and Bones/*metabolism Acromesomelic dysplasia, Maroteaux type

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Aug; Vol. 179 (8), pp. 1420-1422. Date of Electronic Publication: 2019 May 11.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature.

Subjects: Heterozygote* ; Mutation* ; Phenotype*

  • Source: Human mutation [Hum Mutat] 2015 Apr; Vol. 36 (4), pp. 474-81. Date of Electronic Publication: 2015 Mar 16.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  32 results for ""Receptors, Atrial Natriuretic Factor""