Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Kirsi Vaaralahti"'
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:
Sirpa Tenhola, Tero Varimo, Mari-Anne Pulkkinen, Annika Tarkkanen, Taneli Raivio, Raimo Voutilainen, Hanna Huopio, Jorma Toppari, Kirsi Vaaralahti, Laura Kariola, Mitja Lääperi, Esa Hämäläinen, Matti Hero, Päivi J. Miettinen, Sanna Toiviainen-Salo
Publikováno v:
The Lancet Child & Adolescent Health. 3:109-120
The treatment of constitutional delay of growth and puberty (CDGP) is an underinvestigated area in adolescent medicine. We tested the hypothesis that peroral aromatase inhibition with letrozole is more efficacious than intramuscular injection of low-
Autor:
Marek Niedziela, Karoliina Wehkalampi, Taneli Raivio, Matti Hero, Kirsi Vaaralahti, Johanna Känsäkoski, Tero Varimo, Päivi J. Miettinen, Anna-Pauliina Iivonen
Background Paternally inherited loss-of-function mutations in MKRN3 underlie central precocious puberty (CPP). We describe clinical and genetic features of CPP patients with paternally inherited MKRN3 mutations in two independent families. Methods Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e92ad28fd82e3871fd023406125105a4
http://hdl.handle.net/10138/340896
http://hdl.handle.net/10138/340896
Autor:
Johanna Känsäkoski, Sandy Ayoub, Tiina Laine, Päivi J. Miettinen, Anna-Pauliina Iivonen, Johanna Hietamäki, Xiaonan Liu, Emma Wakeling, Louise C. Gregory, Matti Hero, Mehul T. Dattani, Nina Brandstack, Andrew J Buckton, Kirsi Vaaralahti, Markku Varjosalo, Taneli Raivio
Publikováno v:
The Journal of Clinical Endocrinology and Metabolism
Context Congenital pituitary hormone deficiencies with syndromic phenotypes and/or familial occurrence suggest genetic hypopituitarism; however, in many such patients the underlying molecular basis of the disease remains unknown. Objective To describ
Autor:
Andrew A. Dwyer, Cheng Xu, Federico Santoni, Samuel A. Malone, Gaetan Ternier, Nicolas J Niederländer, Taneli Raivio, Sara Santini, Daniele Conte, Johanna Tommiska, Filippo Casoni, Kristiina Pulli, Daniele Cassatella, Andrea Messina, Nelly Pitteloud, Johanna Känsäkoski, Giorgio R. Merlo, Yoav Gothilf, Kirsi Vaaralahti, Yisrael Sidis, James S. Acierno, Paolo Giacobini
Publikováno v:
Am J Hum Genet
Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disorder characterized by infertility and the absence of puberty. Defects in GnRH neuron migration or altered GnRH secretion and/or action lead to a severe gonadotropin-releasing hormon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::389f39ff315ce6f9494670ffba8a9ff0
Autor:
Jorma Toppari, Ella Kohva, Päivi J. Miettinen, Taneli Raivio, Virpi Sidoroff, Matti Hero, Kirsi Vaaralahti, Hanna Huopio
Publikováno v:
Journal of the Endocrine Society
Context Recombinant human FSH (r-hFSH), given to prepubertal boys with hypogonadotropic hypogonadism (HH), may induce Sertoli cell proliferation and thereby increase sperm-producing capacity later in life. Objective To evaluate the effects of r-hFSH,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de4c04eb780ff46733aff3e488075830
http://hdl.handle.net/10138/292439
http://hdl.handle.net/10138/292439
Publikováno v:
European Journal of Endocrinology. 174:785-790
ObjectiveMakorin ring finger protein 3 (MKRN3) gene restrains the hypothalamic–pituitary–gonadal axis. In girls, peripheral levels of MKRN3 decline prior to the onset of puberty. We described longitudinal changes in serum MKRN3 levels in boys bef
Autor:
Matti Hero, Anna-Pauliina Iivonen, Johanna Hietamäki, Johanna Känsäkoski, Kirsi Vaaralahti, Elina Holopainen, Päivi J. Miettinen, Taneli Raivio
Publikováno v:
PLoS ONE
PLoS ONE, Vol 12, Iss 11, p e0188750 (2017)
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e230992421291f49ac9411dc4270013
http://hdl.handle.net/10138/229916
http://hdl.handle.net/10138/229916
Autor:
Filippo Casoni, Paolo Giacobini, Päivi Lahermo, Eeva-Marja Sankila, Johanna Känsäkoski, Marita Lipsanen-Nyman, Emily J Lodge, Riikka Keski-Filppula, Kari Kaunisto, Xiaonan Liu, Jørgen K. Kanters, Kristiina Pulli, Tal Buki, Mitja Lääperi, Johanna Tommiska, Riitta Veijola, Mari A. Kaunisto, Joel A. Hirsch, Lei Yuan, Sirpa Kivirikko, Tapani Ebeling, Patrice Mollard, Franziska Phan-Hug, Lasse Skibsbye, Sanna Vuoristo, Kirsi Vaaralahti, Taneli Raivio, Cynthia L. Andoniadou, Manuel Tena-Sempere, Thomas Jespersen, Nelly Pitteloud, Chuyi Tang, Rainer Fagerholm, Leena Valanne, Markku Varjosalo
Publikováno v:
Nature Communications
Tommiska, J, Känsäkoski, J, Skibsbye, L, Vaaralahti, K, Liu, X, Lodge, E J, Tang, C, Yuan, L, Fagerholm, R, Kanters, J K, Lahermo, P, Kaunisto, M, Keski-Filppula, R, Vuoristo, S, Pulli, K, Ebeling, T, Valanne, L, Sankila, E-M, Kivirikko, S, Lääperi, M, Casoni, F, Giacobini, P, Phan-Hug, F, Buki, T, Tena-Sempere, M, Pitteloud, N, Veijola, R, Lipsanen-Nyman, M, Kaunisto, K, Mollard, P, Andoniadou, C L, Hirsch, J A, Varjosalo, M, Jespersen, T & Raivio, T 2017, ' Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis ', Nature Communications, vol. 8, no. 1, 1289 . https://doi.org/10.1038/s41467-017-01429-z
Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
Nature communications, vol. 8, no. 1, pp. 1289
Tommiska, J, Känsäkoski, J, Skibsbye, L, Vaaralahti, K, Liu, X, Lodge, E J, Tang, C, Yuan, L, Fagerholm, R, Kanters, J K, Lahermo, P, Kaunisto, M, Keski-Filppula, R, Vuoristo, S, Pulli, K, Ebeling, T, Valanne, L, Sankila, E-M, Kivirikko, S, Lääperi, M, Casoni, F, Giacobini, P, Phan-Hug, F, Buki, T, Tena-Sempere, M, Pitteloud, N, Veijola, R, Lipsanen-Nyman, M, Kaunisto, K, Mollard, P, Andoniadou, C L, Hirsch, J A, Varjosalo, M, Jespersen, T & Raivio, T 2017, ' Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis ', Nature Communications, vol. 8, no. 1, 1289 . https://doi.org/10.1038/s41467-017-01429-z
Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
Nature communications, vol. 8, no. 1, pp. 1289
Familial growth hormone deficiency provides an opportunity to identify new genetic causes of short stature. Here we combine linkage analysis with whole-genome resequencing in patients with growth hormone deficiency and maternally inherited gingival f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91f65b757cd3eec6b9407f896b92ee41
http://urn.fi/urn:nbn:fi-fe2019081223873
http://urn.fi/urn:nbn:fi-fe2019081223873