M. Marttila

发表

The Zinc Finger-Only Protein Zfp260 Is a Novel Cardiac Regulator and a Nuclear Effector of α1-Adrenergic Signaling

M. Nemer, S. Debrus, P. Paradis, 2005, Molecular and Cellular Biology.

Adrenomedullin Gene Expression in the Rat Heart is Stimulated by Acute Pressure Overload: Blunted Effect in Experimental Hypertension.

O. Vuolteenaho, J. Magga, H. Ruskoaho, 1997, Endocrinology.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Beryl B. Cummings, Jamie L. Marshall, D. MacArthur, 2018, Annals of neurology.

Characterization of the human prolyl 4-hydroxylase tetramer and its multifunctional protein disulfide-isomerase subunit synthesized in a baculovirus expression system.

K. Vuori, T. Pihlajaniemi, K. Kivirikko, 1992, Proceedings of the National Academy of Sciences of the United States of America.

GATA4 mediates activation of the B-type natriuretic peptide gene expression in response to hemodynamic stress.

O. Vuolteenaho, N. Hautala, M. Nemer, 2001, Endocrinology.

Coronary pressure as a determinant of B-type natriuretic peptide gene expression in isolated perfused adult rat heart.

O. Vuolteenaho, J. Magga, H. Ruskoaho, 1998, Life sciences.

Involvement of transcriptional and posttranscriptional mechanisms in cardiac overload-induced increase of B-type natriuretic peptide gene expression.

O. Vuolteenaho, J. Magga, H. Ruskoaho, 1997, Circulation research.

Endothelin-1 is involved in stretch-induced early activation of B-type natriuretic peptide gene expression in atrial but not in ventricular myocytes: acute effects of mixed ET(A)/ET(B) and AT1 receptor antagonists in vivo and in vitro.

O. Vuolteenaho, J. Magga, H. Ruskoaho, 1997, Circulation.

Atrial stretch induces rapid increase in brain natriuretic peptide but not in atrial natriuretic peptide gene expression in vitro.

P. Mäntymaa, O. Vuolteenaho, H. Ruskoaho, 1993, Endocrinology.

Brain natriuretic peptide in plasma, atria, and ventricles of vasopressin- and phenylephrine-infused conscious rats.

P. Mäntymaa, O. Vuolteenaho, J. Magga, 1994, Endocrinology.

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.

J. Trewhella, M. Kreissl, V. Lehtokari, 2013, Brain : a journal of neurology.

Mechanical load-induced alterations in B-type natriuretic peptide gene expression.

S. Pikkarainen, O. Vuolteenaho, N. Hautala, 2001, Canadian journal of physiology and pharmacology.

THE ZINC FINGER ONLY PROTEIN, Zfp260, IS A NOVEL CARDIAC REGULATOR 1 AND A NUCLEAR EFFECTOR OF 1-ADRENERGIC SIGNALING 2 3 Running title: Zfp260, a novel cardiac regulator 4 5

M. Nemer, S. Debrus, P. Paradis, 2005 .

B-type natriuretic peptide: a myocyte-specific marker for characterizing load-induced alterations in cardiac gene expression.

O. Vuolteenaho, J. Magga, H. Ruskoaho, 1998, Annals of medicine.

Mechanisms regulating adrenomedullin gene expression in the left ventricle: role of mechanical load

J. Rysä, S. Pikkarainen, O. Vuolteenaho, 2003, Regulatory Peptides.

Synthesis and secretion of natriuretic peptides in the hypertensive TGR(mREN-2)27 transgenic rat.

D. Ganten, O. Vuolteenaho, H. Ruskoaho, 1996, Hypertension.

Molecular Genetics of Myopathies Caused by β‐Tropomyosin Mutations

K. Pelin, C. Wallgren‐Pettersson, M. Marttila, 2014 .

Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations

K. Pelin, C. Wallgren‐Pettersson, M. Grönholm, 2014, Skeletal Muscle.

Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy.

N. Laing, C. Wallgren‐Pettersson, M. Grönholm, 2012, The Biochemical journal.

Adrenomedullin Gene Expression in the Rat Heart is Stimulated by Acute Pressure Overload: Blunted Effect in Experimental Hypertension.

O. Vuolteenaho, J. Magga, H. Ruskoaho, 1997, Endocrinology.

Augmentation of BNP gene expression in atria by pressure overload in transgenic rats harbouring human renin and angiotensinogen genes.

O. Vuolteenaho, H. Ruskoaho, U. Ganten, 1999, Blood pressure.

Cap disease caused by heterozygous deletion of the β-tropomyosin gene TPM2

K. Pelin, V. Lehtokari, N. Laing, 2007, Neuromuscular Disorders.

Pathogenetic mechanisms and genotype-phenotype correlations in nemaline myopathies and related disorders caused by mutations in tropomyosin genes and nebulin

M. Marttila, M. Marttila, 2014 .

Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2.

K. Pelin, V. Lehtokari, N. Laing, 2007, Neuromuscular disorders : NMD.

Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

Jocelyn Laporte, Carol J. Saunders, K. Pelin, 2014, Human mutation.

Mapping the human genetic architecture of COVID-19

Mattia G. Bergomi, Christopher M. DeBoever, Matthew A. Wiles, 2021, Nature.

A Web Portal for Communicating Polygenic Risk Score Results for Health Care Use—The P5 Study

K. Kristiansson, M. Perola, T. Tuomi, 2021, Frontiers in Genetics.

MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing

A. Beggs, D. Lacomis, H. Abdel-Hamid, 2019, Cold Spring Harbor molecular case studies.

Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

E. Bertini, K. Pelin, E. Mercuri, 2014, Human mutation.

Genome-wide Association Study of Long COVID

Patrick J. Short, Y. Okada, M. Mangino, 2023, medRxiv.

Mapping the human genetic architecture of COVID-19

Mattia G. Bergomi, Christopher M. DeBoever, Matthew A. Wiles, 2021, Nature.

Adrenomedullin Gene Expression in the Rat Heart is Stimulated by Acute Pressure Overload: Blunted Effect in Experimental Hypertension.

O. Vuolteenaho, J. Magga, H. Ruskoaho, 1997, Endocrinology.

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.

J. Trewhella, M. Kreissl, V. Lehtokari, 2013, Brain : a journal of neurology.