Cargando…

An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature

CONTEXT: C-type natriuretic peptide (CNP) is critically involved in endochondral bone growth. Variants in the genes encoding CNP or its cyclic guanosine monophosphate (cGMP)-forming receptor (natriuretic peptide receptor-B [NPR-B], gene NPR2) cause monogenic growth disorders. Here we describe a nove...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lauffer, Peter, Miranda-Laferte, Erick, van Duyvenvoorde, Hermine A, van Haeringen, Arie, Werner, Franziska, Boudin, Eveline, Schmidt, Hannes, Mueller, Thomas D, Kuhn, Michaela, van der Kaay, Daniëlle C M
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2020
Materias:	Clinical Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7450217/ https://www.ncbi.nlm.nih.gov/pubmed/32282051 http://dx.doi.org/10.1210/clinem/dgaa190

Ejemplares similares

Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature
por: Lauffer, Peter, et al.
Publicado: (2022)

Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes
por: Weiss, Birgit, et al.
Publicado: (2021)

SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease
por: Ramirez, J. M., et al.
Publicado: (2019)

Tall Stature: A Challenge for Clinicians
por: Corredor, Beatriz, et al.
Publicado: (2019)

Tall stature: a difficult diagnosis?
por: Meazza, Cristina, et al.
Publicado: (2017)

Tall stature in children: differential diagnosis and management
por: Kumar, Sanjay
Publicado: (2013)

Epiphysiodesis for the treatment of tall stature and leg length discrepancy
por: Willegger, Madeleine, et al.
Publicado: (2021)

Turner syndrome presented with tall stature due to overdosage of the SHOX gene
por: Seo, Go Hun, et al.
Publicado: (2015)

XYY syndrome: a 13-year-old boy with tall stature
por: Jo, Won Ha, et al.
Publicado: (2015)

The aetiology of extreme tall stature in a screened Finnish paediatric population
por: Kärkinen, Juho, et al.
Publicado: (2021)

THE SUBMEMBRANOUS FIBRILS OF HUMAN BLOOD PLATELETS
por: Zucker-Franklin, Dorothea
Publicado: (1970)

Extreme Tall Stature in a Japanese Boy with a 48,XXYY Karyotype
por: Katsushima, Yuriko, et al.
Publicado: (2008)

Etiology and Clinical Profile of Patients with Tall Stature: A Single-Center Experience
por: Goyal, Alpesh, et al.
Publicado: (2020)

Comparison of Commonly Used Methods to Predict the Final Height in Constitutional Tall Stature
por: Matias, Alma Kamar, et al.
Publicado: (2023)

Melanocortin-4 Receptor Deficiency Phenotype with an Interstitial 18q Deletion: A Case Report of Severe Childhood Obesity and Tall Stature
por: Abdullah, Sarah, et al.
Publicado: (2016)

The submembrane machinery for nicotinic acetylcholine receptor clustering
Publicado: (1991)

Analysis of turnover dynamics of the submembranous actin cortex
por: Fritzsche, Marco, et al.
Publicado: (2013)

Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea
por: Razavi, Zahra, et al.
Publicado: (2017)

One Fourth of Adult Patients With Acromegaly Have Tall Stature With Similar Frequency in Males And Females
por: Bogusławska, Anna, et al.
Publicado: (2021)

Distinct submembrane localisation compartmentalises cardiac NPR1 and NPR2 signalling to cGMP
por: Subramanian, Hariharan, et al.
Publicado: (2018)

Diagnostic Work-up and Follow-up in Children with Tall Stature: A Simplified Algorithm for Clinical Practice
por: Stalman, Susanne E., et al.
Publicado: (2015)

Preliminary results of two novel devices for epiphysiodesis in the reduction of excessive predicted final height in tall stature
por: Laufer, Andrea, et al.
Publicado: (2022)

Letter to the Editor Regarding “Comparison of Commonly Used Methods to Predict the Final Height in Constitutional Tall Stature”
por: Roy, Subhankar, et al.
Publicado: (2023)

TRPV2 interacts with actin and reorganizes submembranous actin cytoskeleton
por: Yadav, Manoj, et al.
Publicado: (2020)

Cortical alveoli of Paramecium: a vast submembranous calcium storage compartment
Publicado: (1991)

Submembranous junctional plaque proteins include potential tumor suppressor molecules
Publicado: (1993)

The Apical Submembrane Cytoskeleton Participates in the Organization of the Apical Pole in Epithelial Cells
por: Salas, Pedro J.I., et al.
Publicado: (1997)

Localization of submembranous cations to the leading end of human neutrophils during chemotaxis
Publicado: (1979)

Activity-dependent regulation of T-type calcium channels by submembrane calcium ions
por: Cazade, Magali, et al.
Publicado: (2017)

Chitin perception in plasmodesmata characterizes submembrane immune-signaling specificity in plants
por: Cheval, Cécilia, et al.
Publicado: (2020)

Abstract 69: A novel variant of MTHFR homozygous mutation causing hyperhomocystinemia in a case presenting as tall stature
por: Pande, Arunkumar R, et al.
Publicado: (2022)

Understanding author scientometrics – How tall is tall?
por: Honavar, Santosh G
Publicado: (2021)

Prevalence of pathogenetic MC4R mutations in Italian children with early Onset obesity, tall stature and familial history of obesity
por: Santoro, Nicola, et al.
Publicado: (2009)

RF17 | PMON24 The paradox of combined pituitary hormone deficiency and tall stature: a glimpse from exome sequencing
por: Carvalho, Luciani R, et al.
Publicado: (2022)

β Cell-specific deletion of guanylyl cyclase A, the receptor for atrial natriuretic peptide, accelerates obesity-induced glucose intolerance in mice
por: Tauscher, Sabine, et al.
Publicado: (2018)

Submembrane ATP and Ca(2+) kinetics in α-cells: unexpected signaling for glucagon secretion
por: Li, Jia, et al.
Publicado: (2015)

Tall in the Saddle
por: Bicknell, Joan
Publicado: (1970)

Papillary thyroid carcinoma with tall cell features is as aggressive as tall cell variant: a meta-analysis
por: Vuong, Huy Gia, et al.
Publicado: (2018)

Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery
por: Bahloul, Amel, et al.
Publicado: (2017)

Neuronal activity remodels the F-actin based submembrane lattice in dendrites but not axons of hippocampal neurons
por: Lavoie-Cardinal, Flavie, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_anrsfi9rst904snp6co1b5ve3p