PDE3A mutations cause autosomal dominant hypertension with brachydactyly (Q34475937)

2 August 2017

title

PDE3A mutations cause autosomal dominant hypertension with brachydactyly (English)

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2 August 2017

Sigmar Stricker

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Sylvia Bähring

object named as

Sylvia Bähring

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Atakan Aydin

object named as

Atakan Aydin

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Stefan Mundlos

object named as

Stefan Mundlos

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2 August 2017

Jens Tank

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Peter M Krawitz

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Philipp G Maass

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Friedrich C Luft

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2 August 2017

Hermann Haller

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2 August 2017

Franz Rüschendorf

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2 August 2017

Lars O Hattenbach

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2 August 2017

Anita Rauch

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2 August 2017

Hakan R Toka

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2 August 2017

Jens Jordan

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2 August 2017

Carsten Lindschau

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2 August 2017

Fatimunnisa Qadri

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2 August 2017

Astrid Mühl

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2 August 2017

Thomas F Wienker

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2 August 2017

Nihat Bilginturan

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2 August 2017

Enno Klussmann

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2 August 2017

Okan Toka

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2 August 2017

Carolin Schächterle

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2 August 2017

Anja Weise

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Martin Vaegler

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Herbert Schulz

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Dmitri Parkhomchuk

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Jochen Hecht

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Irene Hollfinger

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Yvette Wefeld-Neuenfeld

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2 August 2017

Eireen Bartels-Klein

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2 August 2017

Martin Kann

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Herbert Schuster

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David Chitayat

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2 August 2017

Martin G Bialer

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Jürg Ott

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Katharina Rittscher

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2 August 2017

Thomas Liehr

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Ghislaine Plessis

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Knut Mai

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Ramin Naraghi

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2 August 2017

Russell Hodge

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2 August 2017

Maxwell Hopp

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Andreas Busjahn

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Fabrice Vandeput

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2 August 2017

Maolian Gong

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Norbert Hübner

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2 August 2017

Matthew A Movsesian

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2 August 2017

language of work or name

English

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publication date

11 May 2015

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2 August 2017

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2 August 2017

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2 August 2017

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2 August 2017

page(s)

647-653

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Noncommunicable diseases.

2 August 2017

cites work

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A cross-over medication trial for patients with autosomal-dominant hypertension with brachydactyly

21 January 2018

1 reference

Neurovascular compression at the ventrolateral medulla in autosomal dominant hypertension and brachydactyly

21 January 2018

1 reference

Childhood Hypertension in Autosomal-Dominant Hypertension With Brachydactyly

21 January 2018

1 reference

Autosomal-dominant hypertension with type E brachydactyly is caused by rearrangement on the short arm of chromosome 12.

21 January 2018

1 reference

Inversion region for hypertension and brachydactyly on chromosome 12p features multiple splicing and noncoding RNA.

21 January 2018

1 reference

Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p

21 January 2018

1 reference

Cyclic nucleotide phosphodiesterase activity, expression, and targeting in cells of the cardiovascular system

21 January 2018

1 reference

Involvement of phosphodiesterase isozymes in osteoblastic differentiation

21 January 2018

1 reference

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis

21 January 2018

1 reference

Exome sequencing identifies PDE4D mutations in acrodysostosis

21 January 2018

1 reference

A misplaced lncRNA causes brachydactyly in humans

21 January 2018

1 reference

Formation of nitric oxide from L-arginine in the central nervous system: a transduction mechanism for stimulation of the soluble guanylate cyclase

21 January 2018

1 reference

Selective regulation of cyclic nucleotide phosphodiesterase PDE3A isoforms

21 January 2018

1 reference

Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance

21 January 2018

1 reference

Phosphodiesterase 3A (PDE3A) deletion suppresses proliferation of cultured murine vascular smooth muscle cells (VSMCs) via inhibition of mitogen-activated protein kinase (MAPK) signaling and alterations in critical cell cycle regulatory proteins

21 January 2018

1 reference

Autosomal dominant hypertension and brachydactyly in a Turkish kindred resembles essential hypertension.

21 January 2018

1 reference

Protein kinase C-mediated phosphorylation and activation of PDE3A regulate cAMP levels in human platelets.

21 January 2018

1 reference

Phosphodiesterase 3A binds to 14-3-3 proteins in response to PMA-induced phosphorylation of Ser428.

21 January 2018

1 reference

Protein kinase A antagonizes platelet-derived growth factor-induced signaling by mitogen-activated protein kinase in human arterial smooth muscle cells

21 January 2018

1 reference

Increased phosphodiesterase 3A/4B expression after angioplasty and the effect on VASP phosphorylation

21 January 2018

1 reference

Endogenous parathyroid hormone-related protein regulates the expression of PTH type 1 receptor and proliferation of vascular smooth muscle cells

21 January 2018

1 reference

Glycogen synthase kinase 3beta interaction protein functions as an A-kinase anchoring protein

21 January 2018

1 reference

Phosphodiesterase type 3A regulates basal myocardial contractility through interacting with sarcoplasmic reticulum calcium ATPase type 2a signaling complexes in mouse heart

21 January 2018

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AKAP complex regulates Ca2+ re-uptake into heart sarcoplasmic reticulum

21 January 2018

1 reference

Regulation of sarcoplasmic reticulum Ca2+ ATPase 2 (SERCA2) activity by phosphodiesterase 3A (PDE3A) in human myocardium: phosphorylation-dependent interaction of PDE3A1 with SERCA2.

21 January 2018

1 reference

Deletion and point mutations of PTHLH cause brachydactyly type E.

21 January 2018

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Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo.

21 January 2018

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Differential regulation of the parathyroid hormone-related protein gene P1 and P3 promoters by cAMP.

21 January 2018

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Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

21 January 2018

1 reference

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

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GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes

21 January 2018

1 reference

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

21 January 2018

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Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus

21 January 2018

1 reference

High-affinity AKAP7delta-protein kinase A interaction yields novel protein kinase A-anchoring disruptor peptides

21 January 2018

1 reference

Solid-phase peptide synthesis: from standard procedures to the synthesis of difficult sequences.

21 January 2018

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Compartmentalization of cAMP-dependent signaling by phosphodiesterase-4D is involved in the regulation of vasopressin-mediated water reabsorption in renal principal cells.

21 January 2018

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Highly functionalized terpyridines as competitive inhibitors of AKAP-PKA interactions

21 January 2018

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Small molecule AKAP-protein kinase A (PKA) interaction disruptors that activate PKA interfere with compartmentalized cAMP signaling in cardiac myocytes

21 January 2018

1 reference

New universal primers facilitate Pyrosequencing

21 January 2018

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A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.

21 January 2018

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Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12

21 January 2018

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7 January 2021

Hereditary Brachydactyly Associated with Hypertension

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7 January 2021

Isoforms of cyclic nucleotide phosphodiesterase PDE3A in cardiac myocytes

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7 January 2021

Comparison of the effects of cilostazol and milrinone on intracellular cAMP levels and cellular function in platelets and cardiac cells

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7 January 2021

Reduced phosphodiesterase 3 activity and phosphodiesterase 3A level in synthetic vascular smooth muscle cells: implications for use of phosphodiesterase 3 inhibitors in cardiovascular tissues

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7 January 2021

Milrinone for persistent pulmonary hypertension of the newborn

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7 January 2021

Invited review: regulation of myosin phosphorylation in smooth muscle

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7 January 2021

Identifiers

DOI

10.1038/NG.3302

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2 August 2017

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