K. Pelin

发表

Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia

A. Chapelle, M. Ridanpää, H. Eenennaam, 2001, Cell.

G.O.2 Mutations in LMOD3 cause severe nemaline myopathy by disrupting thin filament organisation in skeletal muscle

E. Bertini, K. Pelin, M. Lek, 2014, Neuromuscular Disorders.

A serine/threonine kinase gene defective in Peutz–Jeghers syndrome

M. Stratton, G. Bignell, L. Aaltonen, 1998, Nature.

Characterization of nebulette and nebulin and emerging concepts of their roles for vertebrate Z-discs.

K. Pelin, H. Granzier, J. Schaper, 1998, Journal of molecular biology.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

S. Gabriel, M. Daly, D. MacArthur, 2014, The Journal of clinical investigation.

Cytogenetic response to asbestos fibers in cultured human primary mesothelial cells from 10 different donors.

K. Pelin, A. Hirvonen, K. Linnainmaa, 1995, Mutation research.

Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy

K. Pelin, F. Muntoni, C. Wallgren‐Pettersson, 2001, Neuromuscular Disorders.

Mutations in the nebulin gene can cause severe congenital nemaline myopathy

K. Pelin, K. Bushby, C. Wallgren‐Pettersson, 2002, Neuromuscular Disorders.

Nebulin mutations in autosomal recessive nemaline myopathy: an update

K. Pelin, F. Muntoni, C. Wallgren‐Pettersson, 2002, Neuromuscular Disorders.

Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts

K. Pelin, V. Lehtokari, C. Wallgren‐Pettersson, 2004, European Journal of Human Genetics.

Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.

K. Pelin, F. Muntoni, H. Goebel, 2004, Neuromuscular disorders : NMD.

Developmental and muscle-type-specific expression of mouse nebulin exons 127 and 128.

K. Pelin, C. Wallgren‐Pettersson, K. Donner, 2006, Genomics.

Distal myopathy caused by homozygous missense mutations in the nebulin gene.

A. Paetau, K. Pelin, V. Lehtokari, 2007, Brain : a journal of neurology.

Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the TTN Segmental Duplication Region

K. Pelin, V. Lehtokari, K. Kiiski, 2022, Genes.

Manganese superoxide dismutase in human pleural mesothelioma cell lines.

K. Pelin, K. Raivio, V. Kinnula, 1996, Free radical biology & medicine.

A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region

K. Pelin, V. Lehtokari, C. Wallgren‐Pettersson, 2022, PloS one.

Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation

K. Pelin, C. Wallgren‐Pettersson, C. Sewry, 2018, Scientific Reports.

Inherited GSTM1 and NAT2 defects as concurrent risk modifiers in asbestos-related human malignant mesothelioma.

K. Pelin, A. Hirvonen, A. Karjalainen, 1995, Cancer research.

Modifiers in Asbestos-related Human Malignant Mesothelioma Defects as Concurrent Risk NAT 2 and GSTM 1 Inherited

K. Pelin, A. Hirvonen, A. Karjalainen, 2006 .

Induction of sister chromatid exchange by 3,4-expoxybutane-1,2-diol in cultured human lymphocytes of different GSTT1 and GSTM1 genotypes.

H. Järventaus, H. Norppa, K. Pelin, 1996, Mutation research.

Update on the Genetics of Congenital Myopathies.

K. Pelin, C. Wallgren‐Pettersson, 2019, Seminars in pediatric neurology.

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene

A. Paetau, K. Pelin, V. Lehtokari, 2019, Neuromuscular Disorders.

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.

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

K. Pelin, V. Lehtokari, E. Malfatti, 2014, Acta neuropathologica communications.

Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy

K. Pelin, D. Figarella-Branger, V. Lehtokari, 2011, Neuromuscular Disorders.

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

K. Pelin, V. Lehtokari, C. Ottenheijm, 2011, Skeletal Muscle.

Magnetic resonance imaging of muscle in nemaline myopathy

G. Bydder, K. Pelin, J. Allsop, 2004, Neuromuscular Disorders.

Muscle histopathology in nebulin-related nemaline myopathy Malfatti

K. Pelin, V. Lehtokari, E. Malfatti, 2022 .

A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation

K. Pelin, R. Chaoui, R. Rossi, 2020, Neuromuscular Disorders.

Induction of sister chromatid exchange by 1,2-epoxy-3-butene in cultured human lymphocytes: influence of GSTT1 genotype.

H. Norppa, K. Pelin, A. Hirvonen, 1998, Carcinogenesis.

Induction of sister chromatid exchange by 1 , 2-epoxy-3-butene in cultured human lymphocytes : influence of GSTT 1 genotype

H. Norppa, K. Pelin, A. Hirvonen, 1998 .

Influence of erythrocyte glutathione S-transferase T1 on sister chromatid exchanges induced by diepoxybutane in cultured human lymphocytes.

H. Norppa, K. Pelin, A. Hirvonen, 1996, Mutagenesis.

Effects of asbestos and man‐made vitreous fibers on cell division in cultured human mesothelial cells in comparison to rodent cells

K. Pelin, K. Linnainmaa, P. Kivipensas, 1995, Environmental and molecular mutagenesis.

Genetics of the Congenital Myopathies

K. Pelin, 2021 .

Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene

K. Pelin, V. Lehtokari, C. Wallgren‐Pettersson, 2017, Neuromuscular Disorders.

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle α-actin (ACTA1) gene

Susan C. Brown, K. Pelin, E. Mercuri, 2001, Neuromuscular Disorders.

Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy

K. Pelin, F. Muntoni, R. Sutphen, 1999, Nature Genetics.

CORE-ROD MYOPATHY CAUSED BY MUTATIONS IN THE NEBULIN GENE

K. Pelin, K. Claeys, V. Lehtokari, 2009, Neurology.

Genotype–phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin

K. Pelin, F. Muntoni, H. Goebel, 2004, Neuromuscular Disorders.

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

Nigel, K. Pelin, M. Bang, 1999, Proceedings of the National Academy of Sciences of the United States of America.

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

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

Mutations in the β-tropomyosin (TPM2) gene – a rare cause of nemaline myopathy

M. Ridanpää, K. Pelin, H. Christen, 2002, Neuromuscular Disorders.

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

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

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.

M. Ridanpää, K. Pelin, H. Christen, 2002, Neuromuscular disorders : NMD.

A nebulin super‐repeat panel reveals stronger actin binding toward the ends of the super‐repeat region

K. Pelin, V. Lehtokari, C. Wallgren‐Pettersson, 2018, Muscle & nerve.

Mutation‐specific effects on thin filament length in thin filament myopathy

K. Pelin, B. Engelen, V. Lehtokari, 2016, Annals of neurology.

Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

Jocelyn Laporte, K. Pelin, C. Saunders, 2014, Human mutation.

The exon 55 deletion in the nebulin gene – One single founder mutation with world-wide occurrence

K. Pelin, V. Lehtokari, A. Beggs, 2009, Neuromuscular Disorders.

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

K. Pelin, K. Bushby, F. Muntoni, 2006, Human mutation.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

S. Gabriel, M. Daly, D. MacArthur, 2015, The Journal of clinical investigation.

Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the TTN Segmental Duplication Region

K. Pelin, V. Lehtokari, K. Kiiski, 2022, Neuromuscular Disorders.

Advances in Brief p 53 and Kirsten-ras Mutations in Human Mesothelioma Cell Lines

R. Metcalf, K. Pelin, C. Harris, 2006 .

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb

Joshua S. Clayton, K. Pelin, G. Ravenscroft, 2020, Acta Neuropathologica Communications.

Gains and losses of DNA sequences in malignant mesothelioma by comparative genomic hybridization.

K. Pelin, O. Kallioniemi, S. Knuutila, 1996, Cancer genetics and cytogenetics.

p53 and Kirsten-ras mutations in human mesothelioma cell lines.

R. Metcalf, K. Pelin, W. Bennett, 1992, Cancer research.

G.O.16 Differential isoform expression and selective muscle involvement in muscular dystrophies

P. Somervuo, P. Auvinen, K. Pelin, 2015, Neuromuscular Disorders.

Refined Localisation of the Genes for Nebulin and Titin on Chromosome 2q Allows the Assignment of Nebulin as a Candidate Gene for Autosomal Recessive Nemaline Myopathy

A. Chapelle, M. Ridanpää, K. Pelin, 1997, European journal of human genetics : EJHG.

Targeted array comparative genomic hybridization – A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes

K. Pelin, V. Lehtokari, C. Wallgren‐Pettersson, 2013, Neuromuscular Disorders.

Identification of muscle specific ring finger proteins as potential regulators of the titin kinase domain.

K. Pelin, M. Bang, C. Gregorio, 2001, Journal of molecular biology.

A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array

Ari Löytynoja, Vilma-Lotta Lehtokari, A. Löytynoja, 2015, European Journal of Human Genetics.

Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation

K. Pelin, C. Wallgren‐Pettersson, C. Sewry, 2018, Scientific Reports.

Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin

K. Pelin, S. Rudnik-Schöneborn, V. Lehtokari, 2008, European Journal of Human Genetics.

Cytotoxicity and anaphase aberrations induced by mineral fibres in cultured human mesothelial cells.

K. Pelin, K. Husgafvel‐Pursiainen, E. Vanhala, 1992, Toxicology in vitro : an international journal published in association with BIBRA.

Interferon (IFN)‐α and IFN‐γ in combination with methotrexate: in vitro sensitivity studies in four human mesothelioma cell lines

K. Pelin, K. Mattson, K. Linnainmaa, 1995 .

Nebulin expression in patients with nemaline myopathy

K. Pelin, M. Bang, M. Zatz, 2001, Neuromuscular Disorders.

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

A. Chapelle, K. Pelin, F. Muntoni, 1999, Neuromuscular Disorders.

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.

A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy

K. Pelin, F. Muntoni, V. Lehtokari, 2015, Journal of neuromuscular diseases.

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders

K. Pelin, V. Lehtokari, C. Wallgren‐Pettersson, 2018, Journal of neuromuscular diseases.

Expression of cell adhesion molecules and connexins in gap junctional intercellular communication deficient human mesothelioma tumour cell lines and communication competent primary mesothelial cells.

K. Pelin, A. Hirvonen, K. Linnainmaa, 1994, Carcinogenesis.

Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin

K. Pelin, V. Lehtokari, C. Wallgren‐Pettersson, 2021, Neuromuscular Disorders.

Interferon-alpha and -gamma in combination with chemotherapeutic drugs: in vitro sensitivity studies in four human mesothelioma cell lines.

K. Pelin, K. Husgafvel‐Pursiainen, A. Ekman, 1992, Anti-cancer drugs.

Expression of multiple nebulin isoforms in human skeletal muscle and brain

A. Paetau, P. Somervuo, P. Auvinen, 2012, Muscle & nerve.

Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report

A. Paetau, K. Pelin, V. Lehtokari, 2023, Journal of neuromuscular diseases.

A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness

K. Pelin, V. Lehtokari, C. Wallgren‐Pettersson, 2015, Journal of Human Genetics.

Copy number variation analysis increases the diagnostic yield in muscle diseases

K. Pelin, A. López de Munain, A. Sáenz, 2017, Neurology: Genetics.

Gap junctional intercellular communication of primary and asbestos-associated malignant human mesothelial cells.

K. Pelin, H. Yamasaki, D. Fitzgerald, 1993, Carcinogenesis.

Neuromuscular Disorders

K. Pelin, V. Lehtokari, B. Udd, 2022 .

Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia

K. Pelin, V. Lehtokari, H. Tyynismaa, 2023, Neuromuscular Disorders.