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Academic Journal

Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH.

  • Authors : Chen H; Endocrinology Department, Fuzhou Children's Hospital of Fujian Medical University, Fuzhou, 350005, Fujian, China.; Laboratory Center of Fuzhou Children's Hospital, Fujian Medical University, Fuzhou, Fujian Province, China.

Subjects: Dwarfism*/Dwarfism*/Dwarfism*/drug therapy ; Dwarfism*/Dwarfism*/Dwarfism*/genetics ; Growth Hormone*/Growth Hormone*/Growth Hormone*/genetics

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jul 27; Vol. 18 (1), pp. 221. Date of Electronic Publication: 2023 Jul 27.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Heterozygous NPR2 Variants in Idiopathic Short Stature.

  • Authors : Stavber L; Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, UMC, 1000 Ljubljana, Slovenia.; Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, UMC, 1000 Ljubljana, Slovenia.

Subjects: Dwarfism*/Dwarfism*/Dwarfism*/drug therapy ; Dwarfism*/Dwarfism*/Dwarfism*/genetics ; Receptors, Atrial Natriuretic Factor*/Receptors, Atrial Natriuretic Factor*/Receptors, Atrial Natriuretic Factor*/genetics

  • Source: Genes [Genes (Basel)] 2022 Jun 15; Vol. 13 (6). Date of Electronic Publication: 2022 Jun 15.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425

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Academic Journal

Novel NPR2 Gene Mutations Affect Chondrocytes Function via ER Stress in Short Stature.

  • Authors : Li Q; Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China.; Fan X

Subjects: Body Height*/Body Height*/Body Height*/genetics ; Chondrocytes* ; Dwarfism*/Dwarfism*/Dwarfism*/genetics Acromesomelic dysplasia

  • Source: Cells [Cells] 2022 Apr 08; Vol. 11 (8). Date of Electronic Publication: 2022 Apr 08.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409

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Academic Journal

A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan).

  • Authors : Mustafa S; Zoology Division, Institute of Pure and Applied Biology, Bahauddin Zakariya University, Multan, 60800, Pakistan.; Akhtar Z

Subjects: Codon, Nonsense*; Dwarfism/Dwarfism/Dwarfism/*genetics ; Osteochondrodysplasias/Osteochondrodysplasias/Osteochondrodysplasias/*genetics Acromesomelic dysplasia

  • Source: Genes & genomics [Genes Genomics] 2020 Aug; Vol. 42 (8), pp. 847-854. Date of Electronic Publication: 2020 Jun 06.Publisher: The Korean Society of Genetics Country of Publication: Korea (South) NLM ID: 101481027 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.

  • Authors : Simsek-Kiper PO; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. .; Urel-Demir G

Subjects: Genetic Predisposition to Disease*; Dwarfism/Dwarfism/Dwarfism/*genetics ; Osteochondrodysplasias/Osteochondrodysplasias/Osteochondrodysplasias/*epidemiology Acromesomelic dysplasia

  • Source: Journal of human genetics [J Hum Genet] 2021 Jun; Vol. 66 (6), pp. 585-596. Date of Electronic Publication: 2020 Dec 07.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic 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

NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy.

  • Authors : Plachy L; Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, 150 06, Czech Republic.; Dusatkova P

Subjects: Polymorphism, Single Nucleotide*; Body Height/Body Height/Body Height/*genetics ; Dwarfism/Dwarfism/Dwarfism/*drug therapy

  • Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2020 Mar 01; Vol. 105 (3).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

Dephosphorylation is the mechanism of fibroblast growth factor inhibition of guanylyl cyclase-B.

  • Authors : Robinson JW; Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, USA.; Egbert JR

Subjects: Dwarfism/Dwarfism/Dwarfism/*genetics ; Natriuretic Peptide, C-Type/Natriuretic Peptide, C-Type/Natriuretic Peptide, C-Type/*genetics ; Receptor, Fibroblast Growth Factor, Type 3/Receptor, Fibroblast Growth Factor, Type 3/Receptor, Fibroblast Growth Factor, Type 3/*genetics

  • Source: Cellular signalling [Cell Signal] 2017 Dec; Vol. 40, pp. 222-229. Date of Electronic Publication: 2017 Sep 28.Publisher: Elsevier Science Ltd Country of Publication: England NLM ID: 8904683 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  21 results for ""Receptors, Atrial Natriuretic Factor""