Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Kirsi Vaaralahti"'
Autor:
Johanna Hietamäki, Juho Kärkinen, Anna-Pauliina Iivonen, Kirsi Vaaralahti, Annika Tarkkanen, Henrikki Almusa, Hanna Huopio, Matti Hero, Päivi J. Miettinen, Taneli Raivio
Publikováno v:
EClinicalMedicine, Vol 51, Iss , Pp 101556- (2022)
Summary: Background: Childhood-onset combined pituitary hormone deficiency (CPHD) has a wide spectrum of etiologies and genetic causes for congenital disease. We aimed to describe the clinical spectrum and genetic etiologies of CPHD in a single terti
Externí odkaz:
https://doaj.org/article/a8b96b05d8674093940f45072f82a7f9
Autor:
Venkatram Yellapragada, Nazli Eskici, Yafei Wang, Shrinidhi Madhusudan, Kirsi Vaaralahti, Timo Tuuri, Taneli Raivio
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 8 (2022)
Fibroblast growth factor 8 (FGF8), acting through the fibroblast growth factor receptor 1 (FGFR1), has an important role in the development of gonadotropin-releasing hormone-expressing neurons (GnRH neurons). We hypothesized that FGF8 regulates diffe
Externí odkaz:
https://doaj.org/article/51fc2faa6578419b9ab6b2c824f4bd5e
Publikováno v:
Endocrine Connections, Vol 8, Iss 5, Pp 506-509 (2019)
In approximately half of congenital hypogonadotropic hypogonadism (cHH) patients, the genetic cause remains unidentified. Since the lack of certain mi RNAs in animal models has led to cHH, we sequenced human miRNAs predicted to regulate cHH-related g
Externí odkaz:
https://doaj.org/article/977ba6d3ce8f46859ae28fc5484424f6
Autor:
Johanna Tommiska, Johanna Känsäkoski, Lasse Skibsbye, Kirsi Vaaralahti, Xiaonan Liu, Emily J. Lodge, Chuyi Tang, Lei Yuan, Rainer Fagerholm, Jørgen K. Kanters, Päivi Lahermo, Mari Kaunisto, Riikka Keski-Filppula, Sanna Vuoristo, Kristiina Pulli, Tapani Ebeling, Leena Valanne, Eeva-Marja Sankila, Sirpa Kivirikko, Mitja Lääperi, Filippo Casoni, Paolo Giacobini, Franziska Phan-Hug, Tal Buki, Manuel Tena-Sempere, Nelly Pitteloud, Riitta Veijola, Marita Lipsanen-Nyman, Kari Kaunisto, Patrice Mollard, Cynthia L. Andoniadou, Joel A. Hirsch, Markku Varjosalo, Thomas Jespersen, Taneli Raivio
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
Growth retardation is most commonly caused by genetic defects in the growth hormone pathway. Here, in families with growth retardation and gingival fibromatosis, the authors identify mutations in the potassium channel gene KCNQ1 that cause electrophy
Externí odkaz:
https://doaj.org/article/b5b12ca766544223adfa800c677fab94
Autor:
Johanna Hietamäki, Matti Hero, Elina Holopainen, Johanna Känsäkoski, Kirsi Vaaralahti, Anna-Pauliina Iivonen, Päivi J Miettinen, Taneli Raivio
Publikováno v:
PLoS ONE, Vol 12, Iss 11, p e0188750 (2017)
Biallelic, partial loss-of-function mutations in GNRHR cause a wide spectrum of reproductive phenotypes from constitutional delay of growth and puberty to complete congenital hypogonadotropic hypogonadism. We studied the frequency of GNRHR, FGFR1, TA
Externí odkaz:
https://doaj.org/article/825fedfca21b496f8849e9faa1a14fac
Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations.
Autor:
Eeva-Maria Laitinen, Johanna Tommiska, Timo Sane, Kirsi Vaaralahti, Jorma Toppari, Taneli Raivio
Publikováno v:
PLoS ONE, Vol 7, Iss 6, p e39450 (2012)
BACKGROUND: Congenital hypogonadotropic hypogonadism (HH) is a rare cause for delayed or absent puberty. These patients may recover from HH spontaneously in adulthood. To date, it is not possible to predict who will undergo HH reversal later in life.
Externí odkaz:
https://doaj.org/article/8c2dfa59e87148d483d7fbd5979adf7f
Publikováno v:
European Journal of Endocrinology. 184:K11-K14
Objective The role of miRNA as endocrine regulators is emerging, and microRNA mir-30b has been reported to repress Mkrn3. However, the expression of miR-30b during male puberty has not been studied. Design and methods Circulating relative miR-30b exp
Autor:
Kirsi Vaaralahti, Anna-Pauliina Iivonen, Taneli Raivio, Venkatram Yellapragada, Virpi Sidoroff, Henrikki Almusa, Juho Kärkinen
Publikováno v:
European Journal of Endocrinology
Patients with deletions on chromosome 9q31.2 may exhibit delayed puberty, craniofacial phenotype including cleft lip/palate, and olfactory bulb hypoplasia. We report a patient with congenital HH with anosmia (Kallmann syndrome, KS) and a de novo 2.38
Autor:
Tero Varimo, Päivi J Miettinen, Kirsi Vaaralahti, Jorma Toppari, Hanna Huopio, Raimo Voutilainen, Sirpa Tenhola, Matti Hero, Taneli Raivio
Context Circulating levels of liver-enriched antimicrobial peptide 2 (LEAP2), a ghrelin receptor antagonist, decrease under caloric restriction and increase in obesity. The role of LEAP2 in male puberty, a phase with accelerated energy demand, is unc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3eb246c2769fa1607ad9db21ce32304
http://hdl.handle.net/10138/342227
http://hdl.handle.net/10138/342227
Autor:
Venkatram Yellapragada, Nazli Eskici, Yafei Wang, Shrinidhi Madhusudan, Kirsi Vaaralahti, Timo Tuuri, Taneli Raivio
Publikováno v:
Disease modelsmechanisms. 15(8)
Fibroblast growth factor 8 (FGF8), acting through the fibroblast growth factor receptor 1 (FGFR1), has an important role in the development of gonadotropin-releasing hormone-expressing neurons (GnRH neurons). We hypothesized that FGF8 regulates diffe