Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Susann Karlberg"'
Autor:
Johanna Sivunen, Susann Karlberg, Reetta Kivisaari, Jouko Lohi, Niklas Karlberg, Eero Jokinen, Taisto Sarkola, Timo Jahnukainen, Marita Lipsanen‐Nyman, Hannu Jalanko
Publikováno v:
Liver International. 42:1369-1378
Background and Aims Mulibrey nanism (MUL) is a multiorgan disease caused by recessive mutations in the TRIM37 gene. Chronic heart failure and hepatopathy are major determinants of prognosis in MUL patients, which prompted us to study liver biochemist
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cde8b8894ccdc70bb1a697dda3132679
https://doi.org/10.1111/liv.15213
https://doi.org/10.1111/liv.15213
Autor:
Kaisa M. Kettunen, Riitta Karikoski, Riikka H. Hämäläinen, Teija T. Toivonen, Vasily D. Antonenkov, Natalia Kulesskaya, Vootele Voikar, Maarit Hölttä-Vuori, Elina Ikonen, Kirsi Sainio, Anu Jalanko, Susann Karlberg, Niklas Karlberg, Marita Lipsanen-Nyman, Jorma Toppari, Matti Jauhiainen, J. Kalervo Hiltunen, Hannu Jalanko, Anna-Elina Lehesjoki
Publikováno v:
Biology Open, Vol 5, Iss 5, Pp 584-595 (2016)
Mulibrey nanism (MUL) is a rare autosomal recessive multi-organ disorder characterized by severe prenatal-onset growth failure, infertility, cardiopathy, risk for tumors, fatty liver, and type 2 diabetes. MUL is caused by loss-of-function mutations i
Externí odkaz:
https://doaj.org/article/f8f2c0d5711c4276a5a02eaf172b5914
Autor:
Markku Kupari, Susann Karlberg, Pekka Valmari, Päivi Piirilä, Anssi Sovijärvi, Merja Kajosaari, Hannu Jalanko, Johanna Sivunen, Marita Lipsanen-Nyman
Background Mulibrey nanism (MUL) is a rare growth restriction disorder with multiple organ manifestations caused by genetic defects affecting the TRIM37 protein. A perimyocardial heart disease is the most serious manifestation. Many MUL children appe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3acd9f102214aeca5d465e07b58be75
http://hdl.handle.net/10138/319700
http://hdl.handle.net/10138/319700
Publikováno v:
Human Reproduction. 33:1254-1261
Study question What is the timing of onset and clinical course of premature ovarian insufficiency (POI) in patients with Mulibrey nanism (MUL), a monogenic disorder caused by mutations of the peroxisomal TRIM37 gene? Summary answer The number of ovar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0873446df19ff9a3642989c389edd48
https://doi.org/10.1093/humrep/dey103
https://doi.org/10.1093/humrep/dey103
Autor:
Johanna Sivunen, Hannu Jalanko, Marita Lipsanen-Nyman, Susann Karlberg, Niklas Karlberg, Jouko Lohi
Publikováno v:
Pediatric Nephrology. 32:1531-1536
Background Mulibrey nanism (MUL) is a rare inherited disease caused by genetic defects affecting peroxisomal TRIM37 protein. MUL affects multiple organs, leading to growth retardation and early onset type 2 diabetes. We aimed to characterize the stru
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c92abaf715745639042cd6419e0ac853
https://doi.org/10.1007/s00467-017-3669-5
https://doi.org/10.1007/s00467-017-3669-5
Autor:
Anu Jalanko, Susann Karlberg, Niklas Karlberg, Matti Jauhiainen, J. Kalervo Hiltunen, Kirsi Sainio, Anna-Elina Lehesjoki, Riikka H. Hämäläinen, Teija T. Toivonen, Natalia Kulesskaya, Marita Lipsanen-Nyman, Vootele Voikar, Kaisa Kettunen, Jorma Toppari, Elina Ikonen, Hannu Jalanko, Maarit Hölttä-Vuori, Riitta Karikoski, Vasily D. Antonenkov
Publikováno v:
Biology Open, Vol 5, Iss 5, Pp 584-595 (2016)
Biology Open
Biology Open
Mulibrey nanism (MUL) is a rare autosomal recessive multi-organ disorder characterized by severe prenatal-onset growth failure, infertility, cardiopathy, risk for tumors, fatty liver, and type 2 diabetes. MUL is caused by loss-of-function mutations i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1814512b4b7d4d5a40d17faf07e1dd19
https://doi.org/10.1242/bio.016246
https://doi.org/10.1242/bio.016246
Autor:
Susann Karlberg
Publikováno v:
University of Helsinki
Mulibrey nanism (MUL; OMIM 253250) is an autosomal recessive disorder belonging to the Finnish disease heritage and currently classified as a peroxisomal disorder. MUL is characterized by intrauterine-onset growth restriction, typical dysmorphic feat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::eb9825d9bcd65551687da3a0301172cd
http://hdl.handle.net/10138/33698
http://hdl.handle.net/10138/33698
Autor:
Marita Lipsanen-Nyman, Hannu Jalanko, Jorma Toppari, Riitta Karikoski, Susann Karlberg, Niklas Karlberg, Mirja Nurmio
Publikováno v:
The Journal of clinical endocrinology and metabolism. 96(11)
Few monogenic mutations causing human male infertility have been identified to date.We studied pubertal development and fecundity in males with Mulibrey nanism (MUL) caused by mutations in the TRIM37 gene.Twenty-eight male MUL patients of the Finnish
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38d06e9087b8dc9b7b61affb3402481c
https://pubmed.ncbi.nlm.nih.gov/21865362
https://pubmed.ncbi.nlm.nih.gov/21865362
Autor:
Hannu Jalanko, Marita Lipsanen-Nyman, Riitta Karikoski, Sakari Mikkola, Susann Karlberg, Niklas Karlberg
Publikováno v:
The Journal of pathology. 218(2)
Mulibrey nanism (MUL) is a monogenic disorder with prenatal-onset growth failure, typical clinical characteristics, cardiopathy and tendency for a metabolic syndrome. It is caused by recessive mutations in the TRIM37 gene encoding for the peroxisomal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23ea0eb22f258755b5ca3fd6454176f8
https://pubmed.ncbi.nlm.nih.gov/19347900
https://pubmed.ncbi.nlm.nih.gov/19347900
Autor:
Ralf Bützow, Marita Lipsanen-Nyman, Anna-Elina Lehesjoki, Heini Lassus, Susann Karlberg, Jukka Kallijärvi
Publikováno v:
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. 22(4)
Mulibrey nanism is an autosomal recessive growth disorder caused by mutations in the TRIM37 gene encoding a protein of unknown function. More than half of female patients with Mulibrey nanism develop benign mesenchymal tumors of ovarian sex cord-stro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a61a48c01aed69aba6ae4697a7a16a3
https://pubmed.ncbi.nlm.nih.gov/19329943
https://pubmed.ncbi.nlm.nih.gov/19329943