المؤلفون: Lotta Koskinen, Margarita Andreevskaya, Mikko Muona, Tuuli Pietila, Janica Djupsjöbacka, Ville Kytölä, Kati Kämpjärvi, Samuel Myllykangas, Pertteli Salmenperä, Juha Koskenvuo, Miko Valori

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101532- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424006782; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/825c7baea0ca430e817bb23ecc0044d0

المؤلفون: Krista Heliö, Marcos Cicerchia, Julie Hathaway, Johanna Tommiska, Johanna Huusko, Inka Saarinen, Lotta Koskinen, Mikko Muona, Ville Kytölä, Janica Djupsjöbacka, Massimiliano Gentile, Pertteli Salmenperä, Tero-Pekka Alastalo, Christian Steinberg, Tiina Heliö, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo

المصدر: Frontiers in Cardiovascular Medicine, Vol 10 (2023)

مصطلحات موضوعية: dilated cardiomyopathy, cardiomyopathy, genetic testing, next generation sequencing, diagnostic yield, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcvm.2023.1254272/full; https://doaj.org/toc/2297-055X

URL الوصول: https://doaj.org/article/ff822a1fa0e341c99b73042e74defdfd

المؤلفون: Victoria Howell, Johanna Huusko, Manuel Bernal, Allison Faber, Satu Valo, Kimberly Gall, Lotta Koskinen, Tiia Kangas-Kontio, Inka Saarinen, Ville Kytölä, Pauli Siivonen, Janica Djupsjöbacka, Massimiliano Gentile, Pertteli Salmenperä, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100534- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423005344; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/b0751e18ba6843c0b39d0705ce932bed

المؤلفون: Julie Hathaway, Krista Heliö, Inka Saarinen, Jonna Tallila, Eija H. Seppälä, Sari Tuupanen, Hannu Turpeinen, Tiia Kangas-Kontio, Jennifer Schleit, Johanna Tommiska, Ville Kytölä, Miko Valori, Mikko Muona, Johanna Sistonen, Massimiliano Gentile, Pertteli Salmenperä, Samuel Myllykangas, Jussi Paananen, Tero-Pekka Alastalo, Tiina Heliö, Juha Koskenvuo

المصدر: BMC Cardiovascular Disorders, Vol 21, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Hypertrophic cardiomyopathy, Genetic testing, Next generation sequencing, Diagnosis, Counseling, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2261

URL الوصول: https://doaj.org/article/1a8328a56c1a4010ae5eb9b873a650f5

المؤلفون: Juha W Koskenvuo, Inka Saarinen, Saija Ahonen, Johanna Tommiska, Sini Weckström, Eija H Seppälä, Sari Tuupanen, Tiia Kangas-Kontio, Jennifer Schleit, Krista Heliö, Julie Hathaway, Anders Gummesson, Pia Dahlberg, Tiina H Ojala, Ville Vepsäläinen, Ville Kytölä, Mikko Muona, Johanna Sistonen, Pertteli Salmenperä, Massimiliano Gentile, Jussi Paananen, Samuel Myllykangas, Tero-Pekka Alastalo, Tiina Heliö

المصدر: PLoS ONE, Vol 16, Iss 2, p e0245681 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/81628bdf5aaa4625b9953c9f6ecf95db

المؤلفون: Alfonso Urbanucci, Stefan J. Barfeld, Ville Kytölä, Harri M. Itkonen, Ilsa M. Coleman, Daniel Vodák, Liisa Sjöblom, Xia Sheng, Teemu Tolonen, Sarah Minner, Christoph Burdelski, Kati K. Kivinummi, Annika Kohvakka, Steven Kregel, Mandeep Takhar, Mohammed Alshalalfa, Elai Davicioni, Nicholas Erho, Paul Lloyd, R. Jeffrey Karnes, Ashley E. Ross, Edward M. Schaeffer, Donald J. Vander Griend, Stefan Knapp, Eva Corey, Felix Y. Feng, Peter S. Nelson, Fahri Saatcioglu, Karen E. Knudsen, Teuvo L.J. Tammela, Guido Sauter, Thorsten Schlomm, Matti Nykter, Tapio Visakorpi, Ian G. Mills

المصدر: Cell Reports, Vol 19, Iss 10, Pp 2045-2059 (2017)

مصطلحات موضوعية: castration-resistant prostate cancer, BROMO-10, chromatin, ATAD2, BRD2, BRD4, androgen receptor, bromodomain inhibitor, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124717307064; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/a031c1acff234116bfd1c096aa18acae

المؤلفون: Krista Heliö, Julie Hathaway, Marcos Cicerchia, Johanna Tommiska, Johanna Huusko, Inka Saarinen, Lotta Koskinen, Mikko Muona, Ville Kytölä, Janica Djupsjobacka, Massimiliano Gentile, Pertteli Salmenperä, Tero-Pekka Alastalo, Tiina Heliö, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo

المصدر: Heart Rhythm. 20:S246-S247

مصطلحات موضوعية: Physiology (medical), Cardiology and Cardiovascular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2e9e5f2056bb49c5c5986ccf8341c69c
https://doi.org/10.1016/j.hrthm.2023.03.685

المؤلفون: Meeri Pekkarinen, Kristiina Nordfors, Joonas Uusi-Mäkelä, Ville Kytölä, Minna Rauhala, Henna Urhonen, Laura Huhtala, Sergei Häyrynen, Ebrahim Afyounian, Olli Yli-Harja, Wei Zhang, Pauli Helen, Olli Lohi, Hannu Haapasalo, Joonas Haapasalo, Matti Nykter, Juha Kesseli, Kirsi J. Rautajoki

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4e2cef75fb586a2de01dd728e0345d99
https://doi.org/10.1101/2022.03.14.483566

المؤلفون: Meeri Pekkarinen, Kristiina Nordfors, Joonas Uusi-Mäkelä, Ville Kytölä, Minna Rauhala, Henna Urhonen, Sergei Häyrynen, Ebrahim Afyounian, Olli Yli-Harja, Wei Zhang, Pauli Helen, Olli Lohi, Hannu Haapasalo, Joonas Haapasalo, Matti Nykter, Juha Kesseli, Kirsi Granberg

المصدر: Neuro-Oncology. 24:vii123-vii123

مصطلحات موضوعية: Cancer Research, Oncology, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::05837fec13ee274cddfa1abf616937df
https://doi.org/10.1093/neuonc/noac209.468

المؤلفون: Julie Hathaway (10264113), Krista Heliö (10090353), Inka Saarinen (10090344), Jonna Tallila (215442), Eija H. Seppälä (10090350), Sari Tuupanen (241723), Hannu Turpeinen (273711), Tiia Kangas-Kontio (3753775), Jennifer Schleit (195290), Johanna Tommiska (157883), Ville Kytölä (10090362), Miko Valori (5865947), Mikko Muona (10090365), Johanna Sistonen (10090368), Massimiliano Gentile (45486), Pertteli Salmenperä (370761), Samuel Myllykangas (92474), Jussi Paananen (208503), Tero-Pekka Alastalo (839757), Tiina Heliö (232525), Juha Koskenvuo (4375090)

مصطلحات موضوعية: Genetics, Hypertrophic cardiomyopathy, Genetic testing, Next generation sequencing, Diagnosis, Counseling

Relation: https://figshare.com/articles/dataset/Additional_file_2_of_Diagnostic_yield_of_genetic_testing_in_a_heterogeneous_cohort_of_1376_HCM_patients/14173962

الاتاحة: https://doi.org/10.6084/m9.figshare.14173962.v1

المؤلفون: Julie Hathaway (10264113), Krista Heliö (10090353), Inka Saarinen (10090344), Jonna Tallila (215442), Eija H. Seppälä (10090350), Sari Tuupanen (241723), Hannu Turpeinen (273711), Tiia Kangas-Kontio (3753775), Jennifer Schleit (195290), Johanna Tommiska (157883), Ville Kytölä (10090362), Miko Valori (5865947), Mikko Muona (10090365), Johanna Sistonen (10090368), Massimiliano Gentile (45486), Pertteli Salmenperä (370761), Samuel Myllykangas (92474), Jussi Paananen (208503), Tero-Pekka Alastalo (839757), Tiina Heliö (232525), Juha Koskenvuo (4375090)

مصطلحات موضوعية: Genetics, Hypertrophic cardiomyopathy, Genetic testing, Next generation sequencing, Diagnosis, Counseling

Relation: https://figshare.com/articles/dataset/Additional_file_1_of_Diagnostic_yield_of_genetic_testing_in_a_heterogeneous_cohort_of_1376_HCM_patients/14173959

الاتاحة: https://doi.org/10.6084/m9.figshare.14173959.v1

المؤلفون: Juha W. Koskenvuo (10090341), Inka Saarinen (10090344), Saija Ahonen (627198), Johanna Tommiska (157883), Sini Weckström (10090347), Eija H. Seppälä (10090350), Sari Tuupanen (241723), Tiia Kangas-Kontio (3753775), Jennifer Schleit (195290), Krista Heliö (10090353), Julie Hathaway (9989518), Anders Gummesson (5676023), Pia Dahlberg (6786731), Tiina H. Ojala (10090356), Ville Vepsäläinen (10090359), Ville Kytölä (10090362), Mikko Muona (10090365), Johanna Sistonen (10090368), Pertteli Salmenperä (370761), Massimiliano Gentile (45486), Jussi Paananen (208503), Samuel Myllykangas (92474), Tero-Pekka Alastalo (839757), Tiina Heliö (232525)

مصطلحات موضوعية: Biochemistry, Genetics, Neuroscience, Physiology, Developmental Biology, Cancer, exome sequencing, biallelic protein-truncating variants, DCM diagnosis, biallelic NRAP variants, Biallelic loss-of-function, DCM patients, 11 probands, variant database, gnomAD reference population, control group, DCM cases, autosomal recessive, cardiomyopathy Background Familial, protein gene, 577 patients, control cohort, DCM group, NRAP PTVs, retrospective analysis, NRAP variants, control patients, Conclusion Loss-of-function, monogenic disorder, DCM vs

Relation: https://figshare.com/articles/dataset/S1_File_-/13706559

الاتاحة: https://doi.org/10.1371/journal.pone.0245681.s001

المؤلفون: Juha W. Koskenvuo (10090341), Inka Saarinen (10090344), Saija Ahonen (627198), Johanna Tommiska (157883), Sini Weckström (10090347), Eija H. Seppälä (10090350), Sari Tuupanen (241723), Tiia Kangas-Kontio (3753775), Jennifer Schleit (195290), Krista Heliö (10090353), Julie Hathaway (9989518), Anders Gummesson (5676023), Pia Dahlberg (6786731), Tiina H. Ojala (10090356), Ville Vepsäläinen (10090359), Ville Kytölä (10090362), Mikko Muona (10090365), Johanna Sistonen (10090368), Pertteli Salmenperä (370761), Massimiliano Gentile (45486), Jussi Paananen (208503), Samuel Myllykangas (92474), Tero-Pekka Alastalo (839757), Tiina Heliö (232525)

مصطلحات موضوعية: Biochemistry, Genetics, Neuroscience, Physiology, Developmental Biology, Cancer, exome sequencing, biallelic protein-truncating variants, DCM diagnosis, biallelic NRAP variants, Biallelic loss-of-function, DCM patients, 11 probands, variant database, gnomAD reference population, control group, DCM cases, autosomal recessive, cardiomyopathy Background Familial, protein gene, 577 patients, control cohort, DCM group, NRAP PTVs, retrospective analysis, NRAP variants, control patients, Conclusion Loss-of-function, monogenic disorder, DCM vs

Relation: https://figshare.com/articles/dataset/_i_NRAP_i_variants_observed_in_the_patients_with_dilated_cardiomyopathy_/13706577

الاتاحة: https://doi.org/10.1371/journal.pone.0245681.t002

المؤلفون: Juha W. Koskenvuo (10090341), Inka Saarinen (10090344), Saija Ahonen (627198), Johanna Tommiska (157883), Sini Weckström (10090347), Eija H. Seppälä (10090350), Sari Tuupanen (241723), Tiia Kangas-Kontio (3753775), Jennifer Schleit (195290), Krista Heliö (10090353), Julie Hathaway (9989518), Anders Gummesson (5676023), Pia Dahlberg (6786731), Tiina H. Ojala (10090356), Ville Vepsäläinen (10090359), Ville Kytölä (10090362), Mikko Muona (10090365), Johanna Sistonen (10090368), Pertteli Salmenperä (370761), Massimiliano Gentile (45486), Jussi Paananen (208503), Samuel Myllykangas (92474), Tero-Pekka Alastalo (839757), Tiina Heliö (232525)

مصطلحات موضوعية: Biochemistry, Genetics, Neuroscience, Physiology, Developmental Biology, Cancer, exome sequencing, biallelic protein-truncating variants, DCM diagnosis, biallelic NRAP variants, Biallelic loss-of-function, DCM patients, 11 probands, variant database, gnomAD reference population, control group, DCM cases, autosomal recessive, cardiomyopathy Background Familial, protein gene, 577 patients, control cohort, DCM group, NRAP PTVs, retrospective analysis, NRAP variants, control patients, Conclusion Loss-of-function, monogenic disorder, DCM vs

Relation: https://figshare.com/articles/figure/Pedigree_of_the_family-11_where_the_index_patient_was_homozygous_for_c_1344T_A_p_Tyr448_in_i_NRAP_i_whereas_all_other_family_members_who_were_heterozygous_for_the_variant_or_had_homozygous_wild_type_allele_were_unaffected_/13706571

الاتاحة: https://doi.org/10.1371/journal.pone.0245681.g003

المؤلفون: Juha W. Koskenvuo (10090341), Inka Saarinen (10090344), Saija Ahonen (627198), Johanna Tommiska (157883), Sini Weckström (10090347), Eija H. Seppälä (10090350), Sari Tuupanen (241723), Tiia Kangas-Kontio (3753775), Jennifer Schleit (195290), Krista Heliö (10090353), Julie Hathaway (9989518), Anders Gummesson (5676023), Pia Dahlberg (6786731), Tiina H. Ojala (10090356), Ville Vepsäläinen (10090359), Ville Kytölä (10090362), Mikko Muona (10090365), Johanna Sistonen (10090368), Pertteli Salmenperä (370761), Massimiliano Gentile (45486), Jussi Paananen (208503), Samuel Myllykangas (92474), Tero-Pekka Alastalo (839757), Tiina Heliö (232525)

مصطلحات موضوعية: Biochemistry, Genetics, Neuroscience, Physiology, Developmental Biology, Cancer, exome sequencing, biallelic protein-truncating variants, DCM diagnosis, biallelic NRAP variants, Biallelic loss-of-function, DCM patients, 11 probands, variant database, gnomAD reference population, control group, DCM cases, autosomal recessive, cardiomyopathy Background Familial, protein gene, 577 patients, control cohort, DCM group, NRAP PTVs, retrospective analysis, NRAP variants, control patients, Conclusion Loss-of-function, monogenic disorder, DCM vs

Relation: https://figshare.com/articles/figure/Fig_1_-/13706562

الاتاحة: https://doi.org/10.1371/journal.pone.0245681.g001

المؤلفون: Juha W. Koskenvuo (10090341), Inka Saarinen (10090344), Saija Ahonen (627198), Johanna Tommiska (157883), Sini Weckström (10090347), Eija H. Seppälä (10090350), Sari Tuupanen (241723), Tiia Kangas-Kontio (3753775), Jennifer Schleit (195290), Krista Heliö (10090353), Julie Hathaway (9989518), Anders Gummesson (5676023), Pia Dahlberg (6786731), Tiina H. Ojala (10090356), Ville Vepsäläinen (10090359), Ville Kytölä (10090362), Mikko Muona (10090365), Johanna Sistonen (10090368), Pertteli Salmenperä (370761), Massimiliano Gentile (45486), Jussi Paananen (208503), Samuel Myllykangas (92474), Tero-Pekka Alastalo (839757), Tiina Heliö (232525)

مصطلحات موضوعية: Biochemistry, Genetics, Neuroscience, Physiology, Developmental Biology, Cancer, exome sequencing, biallelic protein-truncating variants, DCM diagnosis, biallelic NRAP variants, Biallelic loss-of-function, DCM patients, 11 probands, variant database, gnomAD reference population, control group, DCM cases, autosomal recessive, cardiomyopathy Background Familial, protein gene, 577 patients, control cohort, DCM group, NRAP PTVs, retrospective analysis, NRAP variants, control patients, Conclusion Loss-of-function, monogenic disorder, DCM vs

Relation: https://figshare.com/articles/dataset/Previously_reported_patients_with_biallelic_truncations_in_i_NRAP_i_/13706574

الاتاحة: https://doi.org/10.1371/journal.pone.0245681.t001

المؤلفون: Juha W. Koskenvuo (10090341), Inka Saarinen (10090344), Saija Ahonen (627198), Johanna Tommiska (157883), Sini Weckström (10090347), Eija H. Seppälä (10090350), Sari Tuupanen (241723), Tiia Kangas-Kontio (3753775), Jennifer Schleit (195290), Krista Heliö (10090353), Julie Hathaway (9989518), Anders Gummesson (5676023), Pia Dahlberg (6786731), Tiina H. Ojala (10090356), Ville Vepsäläinen (10090359), Ville Kytölä (10090362), Mikko Muona (10090365), Johanna Sistonen (10090368), Pertteli Salmenperä (370761), Massimiliano Gentile (45486), Jussi Paananen (208503), Samuel Myllykangas (92474), Tero-Pekka Alastalo (839757), Tiina Heliö (232525)

مصطلحات موضوعية: Biochemistry, Genetics, Neuroscience, Physiology, Developmental Biology, Cancer, exome sequencing, biallelic protein-truncating variants, DCM diagnosis, biallelic NRAP variants, Biallelic loss-of-function, DCM patients, 11 probands, variant database, gnomAD reference population, control group, DCM cases, autosomal recessive, cardiomyopathy Background Familial, protein gene, 577 patients, control cohort, DCM group, NRAP PTVs, retrospective analysis, NRAP variants, control patients, Conclusion Loss-of-function, monogenic disorder, DCM vs

Relation: https://figshare.com/articles/figure/Pedigree_of_the_family-6_where_the_index_patient_and_her_affected_brother_were_compound_heterozygous_for_c_4504C_T_p_Arg1502_and_c_72G_C_p_Gln24His_in_i_NRAP_i_/13706565

الاتاحة: https://doi.org/10.1371/journal.pone.0245681.g002

المؤلفون: Juha W. Koskenvuo (10090341), Inka Saarinen (10090344), Saija Ahonen (627198), Johanna Tommiska (157883), Sini Weckström (10090347), Eija H. Seppälä (10090350), Sari Tuupanen (241723), Tiia Kangas-Kontio (3753775), Jennifer Schleit (195290), Krista Heliö (10090353), Julie Hathaway (9989518), Anders Gummesson (5676023), Pia Dahlberg (6786731), Tiina H. Ojala (10090356), Ville Vepsäläinen (10090359), Ville Kytölä (10090362), Mikko Muona (10090365), Johanna Sistonen (10090368), Pertteli Salmenperä (370761), Massimiliano Gentile (45486), Jussi Paananen (208503), Samuel Myllykangas (92474), Tero-Pekka Alastalo (839757), Tiina Heliö (232525)

مصطلحات موضوعية: Biochemistry, Genetics, Neuroscience, Physiology, Developmental Biology, Cancer, exome sequencing, biallelic protein-truncating variants, DCM diagnosis, biallelic NRAP variants, Biallelic loss-of-function, DCM patients, 11 probands, variant database, gnomAD reference population, control group, DCM cases, autosomal recessive, cardiomyopathy Background Familial, protein gene, 577 patients, control cohort, DCM group, NRAP PTVs, retrospective analysis, NRAP variants, control patients, Conclusion Loss-of-function, monogenic disorder, DCM vs

Relation: https://figshare.com/articles/dataset/Enrichment_of_rare_i_NRAP_i_variants_in_patients_with_dilated_cardiomyopathy_DCM_/13706580

الاتاحة: https://doi.org/10.1371/journal.pone.0245681.t003

المؤلفون: Juha W. Koskenvuo (10090341), Inka Saarinen (10090344), Saija Ahonen (627198), Johanna Tommiska (157883), Sini Weckström (10090347), Eija H. Seppälä (10090350), Sari Tuupanen (241723), Tiia Kangas-Kontio (3753775), Jennifer Schleit (195290), Krista Heliö (10090353), Julie Hathaway (9989518), Anders Gummesson (5676023), Pia Dahlberg (6786731), Tiina H. Ojala (10090356), Ville Vepsäläinen (10090359), Ville Kytölä (10090362), Mikko Muona (10090365), Johanna Sistonen (10090368), Pertteli Salmenperä (370761), Massimiliano Gentile (45486), Jussi Paananen (208503), Samuel Myllykangas (92474), Tero-Pekka Alastalo (839757), Tiina Heliö (232525)

مصطلحات موضوعية: Biochemistry, Genetics, Neuroscience, Physiology, Developmental Biology, Cancer, exome sequencing, biallelic protein-truncating variants, DCM diagnosis, biallelic NRAP variants, Biallelic loss-of-function, DCM patients, 11 probands, variant database, gnomAD reference population, control group, DCM cases, autosomal recessive, cardiomyopathy Background Familial, protein gene, 577 patients, control cohort, DCM group, NRAP PTVs, retrospective analysis, NRAP variants, control patients, Conclusion Loss-of-function, monogenic disorder, DCM vs

Relation: https://figshare.com/articles/dataset/Clinical_characteristics_of_patients_with_biallelic_or_potentially_biallelic_i_NRAP_i_variants_/13706583

الاتاحة: https://doi.org/10.1371/journal.pone.0245681.t004

المؤلفون: Ville Kytölä, Reija Hieta, Matti Nykter, Riku Kiviranta, Kati Tarkkonen

المصدر: Gene. 626:119-131

مصطلحات موضوعية: Transcriptional Activation, musculoskeletal diseases, 0301 basic medicine, Chromatin Immunoprecipitation, Core Binding Factor Alpha 1 Subunit, Computational biology, Biology, ta3111, Deep sequencing, Cell Line, Mice, 03 medical and health sciences, Species Specificity, Genetics, Animals, Humans, Nucleotide Motifs, Promoter Regions, Genetic, Gene, Transcription factor, Osteoblasts, Reproducibility of Results, Promoter, General Medicine, Chromatin, RUNX2, Gene expression profiling, DNA binding site, 030104 developmental biology, Chromatin immunoprecipitation, Protein Binding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f68ce689cfd4bf67be72bd3321fffdc
https://doi.org/10.1016/j.gene.2017.05.028