المؤلفون: Pulli, Kristiina, Saarimäki-Vire, Jonna, Ahonen, Pekka, Liu, Xiaonan, Ibrahim, Hazem, Chandra, Vikash, Santambrogio, Alice, Wang, Yafei, Vaaralahti, Kirsi, Iivonen, Anna-Pauliina, Känsäkoski, Johanna, Tommiska, Johanna, Kemkem, Yasmine, Varjosalo, Markku, Vuoristo, Sanna, Andoniadou, Cynthia L, Otonkoski, Timo, Raivio, Taneli

المصدر: Pulli , K , Saarimäki-Vire , J , Ahonen , P , Liu , X , Ibrahim , H , Chandra , V , Santambrogio , A , Wang , Y , Vaaralahti , K , Iivonen , A-P , Känsäkoski , J , Tommiska , J , Kemkem , Y , Varjosalo , M , Vuoristo , S , Andoniadou , C L , Otonkoski , T & Raivio , T 2024 , ' A splice site variant in MADD affects hormone expression in pancreatic β cells and pituitary gonadotropes ' , JCI Insight , vol. 9 , ....

مصطلحات موضوعية: Insulin-Secreting Cells/metabolism, Humans, Animals, Mice, Male, Gonadotrophs/metabolism, Female, RNA Splice Sites/genetics, Cell Line, Insulin/metabolism, Siblings, Exons/genetics, rab3 GTP-Binding Proteins/metabolism, Hypogonadism/genetics

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/8f8d1e94-cdc8-43b3-8bd8-15bffe6c0db9
https://doi.org/10.1172/jci.insight.167598
http://www.scopus.com/inward/record.url?scp=85194024790&partnerID=8YFLogxK

المؤلفون: Eskici, Nazli, Madhusudan, Shrinidhi, Vaaralahti, Kirsi, Yellapragada, Venkatram, Gomez-Sanchez, Celia, Kärkinen, Juho, Almusa, Henrikki, Brandstack, Nina, Miettinen, Päivi J., Wang, Yafei, Raivio, Taneli

المساهمون: Research Programs Unit, STEMM - Stem Cells and Metabolism Research Program, Medicum, HUS Children and Adolescents, Molecular and Integrative Biosciences Research Programme, Children's Hospital, Institute for Molecular Medicine Finland, Clinicum, HUS Medical Imaging Center, Centre of Excellence in Stem Cell Metabolism, Timo Pyry Juhani Otonkoski / Principal Investigator, Department of Physiology

مصطلحات موضوعية: GnRH neurons, Kallmann syndrome, Pogz, Congenital hypogonadotropic hypogonadism, Puberty, General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

Relation: We acknowledge Biomedicum Imaging Unit and Flow Cytometry Facility (University of Helsinki) for providing resources and services. We thank Kristiina Pulli for her support during the review of the manuscript. N.E., Y.W., and T.R.: conceptualization. N.E., S.M., V.Y., and C.G-S.: experiments. J.K. and H.A.: data analysis. N.E.: writing-original draft. N.E., K.V., Y.W., P.J.M., J.K., H.A., N.B., and T.R.: writing-review and editing. N.E., T.R., and K.V.: project administration. Y.W. and T.R.: supervision. T.R.: funding acquisition.; http://hdl.handle.net/10138/584911; 85180559374; 001058180500002

الاتاحة: http://hdl.handle.net/10138/584911

المؤلفون: Wang, Yafei, Madhusudan, Shrinidhi, Cotellessa, Ludovica, Kvist, Jouni, Eskici, Nazli, Yellapragada, Venkatram, Pulli, Kristiina, Lund, Carina, Vaaralahti, Kirsi, Tuuri, Timo, Giacobini, Paolo, Raivio, Taneli

المساهمون: STEMM - Stem Cells and Metabolism Research Program, Department of Physiology, Research Programs Unit, University of Helsinki, Medicum, Raivio Group, HUS Children and Adolescents, Children's Hospital, HUS Gynecology and Obstetrics, Timo Pyry Juhani Otonkoski / Principal Investigator, Clinicum, Helsinki University Hospital Area, Department of Obstetrics and Gynecology

مصطلحات موضوعية: MICROTUBULE-ASSOCIATED PROTEIN, MEDIUM SPINY NEURONS, GENE-EXPRESSION, HORMONE NEURONS, POLYSIALIC ACID, MESSENGER-RNA, MOUSE, MIGRATION, NEUROGENESIS, DOUBLECORTIN, Biochemistry, cell and molecular biology, 11832 Microbiology and virology, Cancers

وصف الملف: application/pdf

Relation: This work has been funded by Academy of Finland (315616 and 275259 to T.R.); Sigrid Juselius Foundation (T. R.); Novo Nordisk Fonden (NNF17OC0027448 to T.R.); Foundation for Pediatric Research (T.R.); The Hospital District of Helsinki and Uusimaa/Children and Adolescents (T. R.); European Union's Horizon 2020 research and innovation program under the HORIZON EUROPE Marie Sklodowska-Curie Actions grant agreement (894596 to Y.W.); European Union's Horizon 2020 research and innovation program under the HORIZON EUROPE Marie Sklodowska-Curie Actions grant agreement (813707 to S.M.); Paivikki ja Sakari Sohlberg Saatio (V.Y.); Instrumentarium Tiedesaatio (V. Y. and N.E). This work was supported by the Inserm Cross-Cutting Scientific Program (HuDeCA to P. G.), by the Agence Nationale de la Recherche (ANR), France (grant number ANR-19CE16-0021-02 to P.G.).; Wang , Y , Madhusudan , S , Cotellessa , L , Kvist , J , Eskici , N , Yellapragada , V , Pulli , K , Lund , C , Vaaralahti , K , Tuuri , T , Giacobini , P & Raivio , T 2022 , ' Deciphering the Transcriptional Landscape of Human Pluripotent Stem Cell-Derived GnRH Neurons : The Role of Wnt Signaling in Patterning the Neural Fate ' , Stem Cells , vol. 40 , no. 12 , pp. 1107–1121 . https://doi.org/10.1093/stmcls/sxac069; http://hdl.handle.net/10138/568422; 1fb86192-3f86-4187-ac7a-def5cf4da1e5; 000870794600001

الاتاحة: http://hdl.handle.net/10138/568422

المؤلفون: Eskici, Nazli, Madhusudan, Shrinidhi, Vaaralahti, Kirsi, Yellapragada, Venkatram, Gomez-Sanchez, Celia, Kärkinen, Juho, Almusa, Henrikki, Brandstack, Nina, Miettinen, Päivi J, Wang, Yafei, Raivio, Taneli

المساهمون: Academy of Finland, Sigrid Juselius Foundation, Novo Nordisk Fonden, Foundation for Pediatric Research, The Hospital District of Helsinki and Uusimaa, Children and Adolescents, Instrumentarium Science Foundation, The Paulo Foundation, The Maud Kuistila Memorial Foundation, Paivikki ja Sakari Sohlberg Säätio, HORIZON EUROPE

المصدر: European Journal of Endocrinology ; volume 189, issue 2, page 271-280 ; ISSN 0804-4643 1479-683X

مصطلحات موضوعية: Endocrinology, General Medicine, Endocrinology, Diabetes and Metabolism

الاتاحة: http://dx.doi.org/10.1093/ejendo/lvad111
https://academic.oup.com/ejendo/advance-article-pdf/doi/10.1093/ejendo/lvad111/51249035/lvad111.pdf
https://academic.oup.com/ejendo/article-pdf/189/2/271/57079481/lvad111.pdf

المؤلفون: Yellapragada, Venkatram, Eskici, Nazli, Wang, Yafei, Madhusudan, Shrinidhi, Vaaralahti, Kirsi, Tuuri, Timo, Raivio, Taneli

المساهمون: STEMM - Stem Cells and Metabolism Research Program, Department of Physiology, Research Programs Unit, University of Helsinki, Medicum, Faculty of Medicine, HUS Gynecology and Obstetrics, Timo Pyry Juhani Otonkoski / Principal Investigator, Clinicum, Helsinki University Hospital Area, Department of Obstetrics and Gynecology, HUS Children and Adolescents, Children's Hospital

مصطلحات موضوعية: hPSCs, GnRH neuron, FGF8, FGFR1, Transcriptome, GONADOTROPIN-RELEASING-HORMONE, STEM-CELLS, KALLMANN-SYNDROME, GENE-EXPRESSION, MESSENGER-RNA, RECEPTOR 1, GROWTH, TELENCEPHALON, GENERATION, Biomedicine, Biochemistry, cell and molecular biology

وصف الملف: application/pdf

Relation: This work has been funded by Academy of Finland (grant numbers: 251413 and 275259 to T.R.), Sigrid Juseliuksen Saatio (grant number: 1135 to T.R.), Novo Nordisk Fonden (grant number: NNF17OC0027448 to T.R.), Lastentautien Tutkimussaatio (130066 and 160284 to T.R.), Paivikki ja Sakari Sohlbergin Saatio (V.Y.), Instrumentarium Tiedesaatio (grant numbers: 210034 and 20006 to V.Y and N.E., respectively) and the European Union's HORIZON EUROPE Marie Sklodowska-Curie Actions (grant number: 813707 to S.M.). Open Access funding provided by University of Helsinki City Centre Campus: Helsingin Yliopisto. Deposited in PMC for immediate release.; Yellapragada , V , Eskici , N , Wang , Y , Madhusudan , S , Vaaralahti , K , Tuuri , T & Raivio , T 2022 , ' FGF8-FGFR1 signaling regulates human GnRH neuron differentiation in a time- and dose-dependent manner ' , Disease Models & Mechanisms , vol. 15 , no. 8 , 049436 . https://doi.org/10.1242/dmm.049436; http://hdl.handle.net/10138/350081; 8054959e-9f44-4916-ba10-33457f17cb37; 000863266300003

الاتاحة: http://hdl.handle.net/10138/350081

المؤلفون: Varimo, Tero, Wang, Yafei, Miettinen, Paivi J., Vaaralahti, Kirsi, Hero, Matti, Raivio, Taneli

المساهمون: HUS Children and Adolescents, STEMM - Stem Cells and Metabolism Research Program, Research Programs Unit, Centre of Excellence in Stem Cell Metabolism, Clinicum, Timo Pyry Juhani Otonkoski / Principal Investigator, Department of Physiology, Raivio Group, Children's Hospital

مصطلحات موضوعية: General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

Relation: This study was supported by The Academy of Finland, The Foundation for Pediatric Research, Helsinki University Hospital Research Funds. This study was supported by The Academy of Finland, The Foundation for; Varimo , T , Wang , Y , Miettinen , P J , Vaaralahti , K , Hero , M & Raivio , T 2021 , ' Circulating miR-30b levels increase during male puberty ' , European Journal of Endocrinology , vol. 184 , no. 5 , pp. K11-K14 . https://doi.org/10.1530/EJE-20-1307; ORCID: /0000-0002-5184-9616/work/93989258; http://hdl.handle.net/10138/340894; 466793e7-6b55-48f6-bcfd-df5316097db5; 000638119400002

الاتاحة: http://hdl.handle.net/10138/340894

المؤلفون: Varimo, Tero, Miettinen, Paivi J., Vaaralahti, Kirsi, Toppari, Jorma, Huopio, Hanna, Voutilainen, Raimo, Tenhola, Sirpa, Hero, Matti, Raivio, Taneli

المساهمون: HUS Children and Adolescents, Children's Hospital, Centre of Excellence in Stem Cell Metabolism, Clinicum, Timo Pyry Juhani Otonkoski / Principal Investigator, Department of Physiology, STEMM - Stem Cells and Metabolism Research Program, Faculty of Medicine, Raivio Group

مصطلحات موضوعية: liver-enriched antimicrobial peptide-2, acylated ghrelin, puberty, testosterone, SECRETAGOGUE RECEPTOR, CONSTITUTIONAL DELAY, BODY-COMPOSITION, GROWTH, GHRELIN, ANTAGONIST, RESISTANCE, LEAP2, BOYS, GENE, Gynaecology and paediatrics

وصف الملف: application/pdf

Relation: This work was supported by The Academy of Finland, The Foundation for Pediatric Research (ie, lastentautien tutkimussaatio), and Helsinki University Hospital Research Funds (ie, Helsingin ja Uudenmaan Sairaanhoitopiiri).; Varimo , T , Miettinen , P J , Vaaralahti , K , Toppari , J , Huopio , H , Voutilainen , R , Tenhola , S , Hero , M & Raivio , T 2022 , ' Circulating Liver-enriched Antimicrobial Peptide-2 Decreases During Male Puberty ' , Journal of the Endocrine Society , vol. 6 , no. 3 . https://doi.org/10.1210/jendso/bvac013; ORCID: /0000-0002-5184-9616/work/110878628; http://hdl.handle.net/10138/342227; e3de06d5-10e1-47cf-af1c-f2bf0edd9675; 000756888100001

الاتاحة: http://hdl.handle.net/10138/342227

المؤلفون: Hietamäki, Johanna, Kärkinen, Juho, Iivonen, Anna Pauliina, Vaaralahti, Kirsi, Tarkkanen, Annika, Almusa, Henrikki, Huopio, Hanna, Hero, Matti, Miettinen, Päivi J., Raivio, Taneli

المساهمون: HUS Children and Adolescents, Raivio Group, Helsinki University Hospital Area, Children's Hospital, STEMM - Stem Cells and Metabolism Research Program, Medicum, Department of Physiology, University of Helsinki, Institute for Molecular Medicine Finland, Clinicum, Timo Pyry Juhani Otonkoski / Principal Investigator, Centre of Excellence in Stem Cell Metabolism

مصطلحات موضوعية: CPHD, Growth sreening, Hypopituitarism, Hypopituitarism etiology, Hypopituitarism genetic, Incidence, Gynaecology and paediatrics

وصف الملف: application/pdf

Relation: This work was supported by the Päivikki and Sakari Sohlberg Foundation (A-P.I.), Biomedicum Helsinki Foundation (JH), and Emil Aaltonen (JH, A-P.I) foundation personal research grants.; Hietamäki , J , Kärkinen , J , Iivonen , A P , Vaaralahti , K , Tarkkanen , A , Almusa , H , Huopio , H , Hero , M , Miettinen , P J & Raivio , T 2022 , ' Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency : A single center experience from over 30 years ' , EClinicalMedicine , vol. 51 , 101556 . https://doi.org/10.1016/j.eclinm.2022.101556; ORCID: /0000-0002-5184-9616/work/116876683; http://hdl.handle.net/10138/346677; f62b4d71-7d65-4d7c-8670-2448233201b2; 85134629302; 000907286800020

الاتاحة: http://hdl.handle.net/10138/346677

المؤلفون: Varimo, Tero, Iivonen, Anna-Pauliina, Känsäkoski, Johanna, Wehkalampi, Karoliina, Hero, Matti, Vaaralahti, Kirsi, Miettinen, Päivi J., Niedziela, Marek, Raivio, Taneli

المساهمون: HUS Children and Adolescents, Children's Hospital, Helsinki University Hospital Area, Raivio Group, STEMM - Stem Cells and Metabolism Research Program, Research Programs Unit, University of Helsinki, Clinicum, Centre of Excellence in Stem Cell Metabolism, Timo Pyry Juhani Otonkoski / Principal Investigator

مصطلحات موضوعية: MISSENSE MUTATION, GIRLS, CHILDREN, BROTHER, AGE, Gynaecology and paediatrics

وصف الملف: application/pdf

Relation: This work was supported by the Foundation for Pediatric Research, Sigrid Juselius Foundation, the Academy of Finland, and Helsinki University Hospital Research Funds.; Varimo , T , Iivonen , A-P , Känsäkoski , J , Wehkalampi , K , Hero , M , Vaaralahti , K , Miettinen , P J , Niedziela , M & Raivio , T 2021 , ' Familial central precocious puberty : two novel MKRN3 mutations ' , Pediatric Research , vol. 90 , pp. 431-535 . https://doi.org/10.1038/s41390-020-01270-z; ORCID: /0000-0002-5184-9616/work/108868618; http://hdl.handle.net/10138/340896; 5287249b-f416-42aa-ae9d-aea034e03a5c; 000590920800004

الاتاحة: http://hdl.handle.net/10138/340896

المؤلفون: Wang, Yafei, Madhusudan, Shrinidhi, Cotellessa, Ludovica, Kvist, Jouni, Eskici, Nazli, Yellapragada, Venkatram, Pulli, Kristiina, Lund, Carina, Vaaralahti, Kirsi, Tuuri, Timo, Giacobini, Paolo, Raivio, Taneli

المساهمون: Academy of Finland, Sigrid Juselius Foundation, Novo Nordisk Fonden, Foundation for Pediatric Research, HORIZON EUROPE Marie Sklodowska-Curie Actions, Marie Sklodowska-Curie, Agence Nationale de la Recherche

المصدر: Stem Cells ; volume 40, issue 12, page 1107-1121 ; ISSN 1066-5099 1549-4918

الاتاحة: http://dx.doi.org/10.1093/stmcls/sxac069
https://academic.oup.com/stmcls/advance-article-pdf/doi/10.1093/stmcls/sxac069/46595021/sxac069.pdf
https://academic.oup.com/stmcls/article-pdf/40/12/1107/48477597/sxac069.pdf

المؤلفون: Iivonen, Anna-Pauliina, Kärkinen, Juho, Yellapragada, Venkatram, Sidoroff, Virpi, Almusa, Henrikki, Vaaralahti, Kirsi, Raivio, Taneli

المساهمون: Raivio Group, STEMM - Stem Cells and Metabolism Research Program, Department of Physiology, Faculty of Medicine, Research Programs Unit, University of Helsinki, HUS Children and Adolescents, Children's Hospital, Institute for Molecular Medicine Finland, Medicum

مصطلحات موضوعية: General medicine, internal medicine and other clinical medicine, GENOME-WIDE ASSOCIATION, HYPOGONADOTROPIC HYPOGONADISM, MESSENGER-RNA, BETA-CATENIN, EXPRESSION, GENE, PREDICTION, FEATURES, PUBERTY, LOCI

وصف الملف: application/pdf

Relation: This work was supported by the Academy of Finland, Foundation for Pediatric Research, Sigrid-Juselius Foundation, Novo Nordisk Foundation, Emil Aaltonen Foundation, University of Helsinki, Helsinki University Hospital, and Päivikki and Sakari Sohlberg foundation. Taneli Raivio is on the Editorial Board of European Journal of Endocrinology.; Iivonen , A-P , Kärkinen , J , Yellapragada , V , Sidoroff , V , Almusa , H , Vaaralahti , K & Raivio , T 2021 , ' Kallmann syndrome in a patient with Weiss-Kruszka syndrome and a de novo deletion in 9q31.2 ' , European Journal of Endocrinology , vol. 185 , no. 1 , pp. 57-66 . https://doi.org/10.1530/EJE-20-1387; RIS: urn:C9588539B0812E4A1FBBF746DF729B5B; http://hdl.handle.net/10138/332769; c10a41d6-dafd-4d34-9ed0-a580f4b10eaa; 000654351900007

الاتاحة: http://hdl.handle.net/10138/332769

المؤلفون: Messina, Andrea, Pulli, Kristiina, Santini, Sara, Acierno, James, Kansakoski, Johanna, Cassatella, Daniele, Xu, Cheng, Casoni, Filippo, Malone, Samuel A., Ternier, Gaetan, Conte, Daniele, Sidis, Yisrael, Tommiska, Johanna, Vaaralahti, Kirsi, Dwyer, Andrew, Gothilf, Yoav, Merlo, Giorgio R., Santoni, Federico, Niederlander, Nicolas J., Giacobini, Paolo, Raivio, Taneli, Pitteloud, Nelly

المساهمون: STEMM - Stem Cells and Metabolism Research Program, Raivio Group, Research Programs Unit, Faculty of Medicine, University of Helsinki, Department of Physiology, University Management, Medicum, HUS Children and Adolescents, Children's Hospital

مصطلحات موضوعية: OLFACTORY SENSORY NEURONS, KALLMANN-SYNDROME, HORMONE NEURONS, GENE, PROTEIN, MUTATIONS, CELLS, MIGRATION, DELETIONS, INSIGHTS, Biomedicine, Genetics, developmental biology, physiology

وصف الملف: application/pdf

Relation: We are grateful to the affected individuals and their families for their invaluable participation in this study, as well as to Erik Hrabovszky (Institute of Experimental Medicine, University of Budapest, Hungary) and Daniel J. Spergel (Section of Endocrinology, Department of Medicine, University of Chicago, IL) for providing anti-GnRH antibodies and GnRH-GFP mice, respectively. We also acknowledgeHarriNiinikoski fromthe University of Turku for referring a CHHprobandwith an NDNFmutation, Kirsi Sainio fromUniversity of Helsinki for her guidance onmouse embryo harvesting, as well as M. Tardivel and A. Bongiovanni (microscopy core facility of Bioimaging Center Lille [BICeL], Lille University School of Medicine) for their technical assistance. We thank our colleagues Lucia Bartoloni, Alexia Spoerl, and Jenny Meylan of the Diagnostic Laboratory of Endocrine Genetic Diseases of the CHUV for their precious assistance in DNA sample preparation. This work was supported by Swiss National Foundation (N.P.) grant 310030_173260, the Institut National de la Sante et de la Recherche Medicale, Inserm, France (grant number U1172), the Agence Nationale de la Recherche, France (grant numbers ANR-14-CE12-0015-01 and ANR18-CE14-0017-02 to P.G.), and Fondazione CRT (Torino, ITALY #2014-0814 to G.R.M).; Messina , A , Pulli , K , Santini , S , Acierno , J , Kansakoski , J , Cassatella , D , Xu , C , Casoni , F , Malone , S A , Ternier , G , Conte , D , Sidis , Y , Tommiska , J , Vaaralahti , K , Dwyer , A , Gothilf , Y , Merlo , G R , Santoni , F , Niederlander , N J , Giacobini , P , Raivio , T & Pitteloud , N 2020 , ' Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism ' , American Journal of Human Genetics , vol. 106 , no. 1 , pp. 58-70 . https://doi.org/10.1016/j.ajhg.2019.12.003; ORCID: /0000-0001-7958-8262/work/68615473; http://hdl.handle.net/10138/327634; 3740d276-a541-41df-a494-b49c7699b781; 000505170800005

الاتاحة: http://hdl.handle.net/10138/327634

المؤلفون: Hietamäki, Johanna, Gregory, Louise C., Ayoub, Sandy, Iivonen, Anna-Pauliina, Vaaralahti, Kirsi, Liu, Xiaonan, Brandstack, Nina, Buckton, Andrew J., Laine, Tiina, Känsäkoski, Johanna, Hero, Matti, Miettinen, Päivi J., Varjosalo, Markku, Wakeling, Emma, Dattani, Mehul T., Raivio, Taneli

المساهمون: HUS Children and Adolescents, Raivio Group, Children's Hospital, Helsinki University Hospital Area, Medicum, Department of Physiology, STEMM - Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Institute of Biotechnology, Molecular Systems Biology, Helsinki Institute of Life Science HiLIFE, HUS Medical Imaging Center, Department of Diagnostics and Therapeutics, Clinicum, Centre of Excellence in Stem Cell Metabolism, Timo Pyry Juhani Otonkoski / Principal Investigator, Biosciences, Research Programs Unit

مصطلحات موضوعية: TBC1D32, hypopituitarism, Sonic Hedgehog signaling, ciliopathy, retinal dystrophy, PITUITARY-GLAND DEVELOPMENT, CYCLE-RELATED KINASE, NEGATIVE REGULATION, HORMONE DEFICIENCY, COMPLEX, GENES, CILIA, FKBP8, General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

Relation: This work was supported by the Academy of Finland (275259), Foundation for Pediatric Research (180086), and Sigrid Juselius Foundation (1135) (for T. R). The research was also made possible through access to patients being recruited to the 100 000 Genomes Project. The 100 000 Genomes Project uses data provided by patients and is collected by the UK National Health Service (NHS) as part of their care and support. The 100 000 Genomes Project is managed by Genomics England Limited (a wholly owned company of the Department of Health) and is funded by the NIHR and NHS England. The Wellcome Trust, Cancer Research UK, and the Medical Research Council have also funded research infrastructure. M.T.D. receives funding from the Great Ormond Street Hospital Children's Charity and the Medical Research Foundation, UK. Research at GOSH benefits from funding received from the NIHR Biomedical Research Centre.; Hietamäki , J , Gregory , L C , Ayoub , S , Iivonen , A-P , Vaaralahti , K , Liu , X , Brandstack , N , Buckton , A J , Laine , T , Känsäkoski , J , Hero , M , Miettinen , P J , Varjosalo , M , Wakeling , E , Dattani , M T & Raivio , T 2020 , ' Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism ' , Journal of Clinical Endocrinology and Metabolism , vol. 105 , no. 6 , pp. 1748-1758 . https://doi.org/10.1210/clinem/dgaa078; ORCID: /0000-0002-1340-9732/work/80224724; ORCID: /0000-0002-5184-9616/work/80229031; http://hdl.handle.net/10138/319877; 6ed6c347-a4f8-4161-88fd-f46f99e61ad0; 000553452200036

الاتاحة: http://hdl.handle.net/10138/319877

المؤلفون: Messina, Andrea, Pulli, Kristiina, Santini, Sara, Acierno, James, Känsäkoski, Johanna, Cassatella, Daniele, Xu, Cheng, Casoni, Filippo, Malone, Samuel A., Ternier, Gaetan, Conte, Daniele, Sidis, Yisrael, Tommiska, Johanna, Vaaralahti, Kirsi, Dwyer, Andrew, Gothilf, Yoav, Merlo, Giorgio R., Santoni, Federico, Niederländer, Nicolas J., Giacobini, Paolo, Raivio, Taneli, Pitteloud, Nelly

المساهمون: Swiss National Foundation, the Institut National de la Santé et de la Recherche Médicale, Agence Nationale de la Recherche, Fondazione CRT

المصدر: The American Journal of Human Genetics ; volume 106, issue 1, page 58-70 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2019.12.003
https://api.elsevier.com/content/article/PII:S0002929719304677?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929719304677?httpAccept=text/plain

المؤلفون: Iivonen, Anna-Pauliina, Känsäkoski, Johanna, Vaaralahti, Kirsi, Raivio, Taneli

المساهمون: Raivio Group, Department of Physiology, Medicum, STEMM - Stem Cells and Metabolism Research Program, University of Helsinki, Clinicum, Children's Hospital, HUS Children and Adolescents

مصطلحات موضوعية: microRNA, mutation, hypogonadotropic hypogonadism, Kallmann syndrome, MICRORNAS, FAMILY, ATLAS, Biomedicine, Genetics, developmental biology, physiology

وصف الملف: application/pdf

Relation: This work was supported by the Academy of Finland, Foundation for Pediatric Research, Sigrid Juselius Foundation, Novo Nordisk Foundation, Emil Aaltonen Foundation, University of Helsinki, Helsinki University Central Hospital and Paivikki and Sakari Sohlberg Foundation.; Iivonen , A-P , Känsäkoski , J , Vaaralahti , K & Raivio , T 2019 , ' Screening for mutations in selected miRNA genes in hypogonadotropic hypogonadism patients ' , Endocrine Connections , vol. 8 , no. 5 , pp. 506-509 . https://doi.org/10.1530/EC-19-0080; http://hdl.handle.net/10138/303542; 249ab792-b7a3-42f6-9fe6-1a7a500faf70; 000467964400008

الاتاحة: http://hdl.handle.net/10138/303542

المؤلفون: Kohva, Ella, Huopio, Hanna, Hero, Matti, Miettinen, Päivi J., Vaaralahti, Kirsi, Sidoroff, Virpi, Toppari, Jorma, Raivio, Taneli

المساهمون: Raivio Group, Clinicum, University of Helsinki, Children's Hospital, Centre of Excellence in Stem Cell Metabolism, Timo Pyry Juhani Otonkoski / Principal Investigator, Department of Physiology, HUS Children and Adolescents

مصطلحات موضوعية: General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

Relation: Kohva , E , Huopio , H , Hero , M , Miettinen , P J , Vaaralahti , K , Sidoroff , V , Toppari , J & Raivio , T 2018 , ' Recombinant Human FSH Treatment Outcomes in Five Boys With Severe Congenital Hypogonadotropic Hypogonadism ' , Journal of the Endocrine Society , vol. 2 , no. 12 , pp. 1345-1356 . https://doi.org/10.1210/js.2018-00225; ORCID: /0000-0002-5184-9616/work/52696882; http://hdl.handle.net/10138/292439; 5493e4eb-6a77-4721-b6e0-b6ed8ae5aa4e; 000455534800003

الاتاحة: http://hdl.handle.net/10138/292439

المؤلفون: Hietamaki, Johanna, Hero, Matti, Holopainen, Elina, Kansakoski, Johanna, Vaaralahti, Kirsi, Iivonen, Anna-Pauliina, Miettinen, Paivi J., Raivio, Taneli

المساهمون: Raivio Group, Children's Hospital, Department of Physiology, Department of Obstetrics and Gynecology, HUS Gynecology and Obstetrics, Research Programs Unit, Research Programme for Molecular Neurology, Timo Pyry Juhani Otonkoski / Principal Investigator, HUS Children and Adolescents

مصطلحات موضوعية: IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM, FUNCTIONAL HYPOTHALAMIC AMENORRHEA, HOMOZYGOUS R262Q MUTATION, HORMONE RECEPTOR, DELAYED PUBERTY, CONSTITUTIONAL DELAY, DIAGNOSIS, REVERSAL, GROWTH, TESTOSTERONE, Biomedicine, Gynaecology and paediatrics

وصف الملف: application/pdf

Relation: This work was supported by The Academy of Finland (268356), http://www.aka.fi/en/; Foundation for Pediatric Research (7495), http://www.lastentautientutkimussaatio.fi/; Sigrid Juselius Foundation (2613), http://sigridjuselius.fi/en/main-page/; and the Finnish Medical Foundation (011115), http://www.laaketieteensaatio.fi/fin/in_english/. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.; Hietamaki , J , Hero , M , Holopainen , E , Kansakoski , J , Vaaralahti , K , Iivonen , A-P , Miettinen , P J & Raivio , T 2017 , ' GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency ' , PLoS One , vol. 12 , no. 11 , 0188750 . https://doi.org/10.1371/journal.pone.0188750; ORCID: /0000-0002-5184-9616/work/40070184; http://hdl.handle.net/10138/229916; 32d8f4f3-8e82-40aa-938f-44d016f18a8e; 85035764135; 000416402000056

الاتاحة: http://hdl.handle.net/10138/229916

المؤلفون: Tommiska, Johanna, Känsäkoski, Johanna, Skibsbye, Lasse, Vaaralahti, Kirsi, Liu, Xiaonan, Lodge, Emily J., Tang, Chuyi, Yuan, Lei, Fagerholm, Rainer, Kanters, Jorgen K., Lahermo, Päivi, Kaunisto, Mari, Keski-Filppula, Riikka, Vuoristo, Sanna, Pulli, Kristiina, Ebeling, Tapani, Valanne, Leena, Sankila, Eeva-Marja, Kivirikko, Sirpa, Lääperi, Mitja, Casoni, Filippo, Giacobini, Paolo, Phan-Hug, Franziska, Buki, Tal, Tena-Sempere, Manuel, Pitteloud, Nelly, Veijola, Riitta, Lipsanen-Nyman, Marita, Kaunisto, Kari, Mollard, Patrice, Andoniadou, Cynthia L., Hirsch, Joel A., Varjosalo, Markku, Jespersen, Thomas, Raivio, Taneli

المساهمون: Department of Physiology, Medicum, Clinicum, Children's Hospital, University of Helsinki, HUS Children and Adolescents, Raivio Group, Institute of Biotechnology, Department of Obstetrics and Gynecology, HUS Gynecology and Obstetrics, Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, Department of Diagnostics and Therapeutics, HUS Medical Imaging Center, Department of Ophthalmology and Otorhinolaryngology, Silmäklinikka, HUS Head and Neck Center, Helsinki University Hospital Area, Lastentautien yksikkö, Molecular Systems Biology

مصطلحات موضوعية: LONG-QT SYNDROME, K+ CHANNEL, ATRIAL-FIBRILLATION, POTASSIUM CHANNELS, STEM-CELLS, GENE, COMPLEX, CALMODULIN, VARIANTS, SUBUNIT, Biomedicine

وصف الملف: application/pdf

Relation: Ms. Lea Puhakka is thanked for skillful technical assistance. Dr. Paivi Miettinen is thanked for commenting on the manuscript. This work was supported by the Academy of Finland (138124 to J.T., 251413 to T.R., 294173 to M.V.), Foundation for Pediatric Research (7495 to T.R.), Sigrid Juselius Foundation (2613 to T.R.), Emil Aaltonen Foundation (2170 to T.R.), Novo Nordisk Foundation (4761 to T.R.), Helsinki University Central Hospital research funds (2010307), Jalmari and Rauha Ahokas Foundation (to J.T.), Paulo Foundation (to J. T.), Danish Council for Independent Research (DFF-133100313B to T. J.), Agence Nationale de la Recherche, ANR, France (ANR-14-CE12-001501 RoSes and GnRH to P.G.: ANR 12 BSV1 0032 Peri-Pulse to both P.G. and P.M.), Swiss National Science Foundation grants (31003A, 135648 to N.P.), Spanish Ministry of Science (Grant BFI-2014-57581-P to M.T.-S., co-funded with EU funds from FEDER Program), COST grant (Action BM1105), Deutsche Israel Program grant (DFG, to J.A.H.), the King's Bioscience Institute and the Guy's and St. Thomas' Charity Prize Ph.D. Programme in Biomedical and Translational Science (to E.J.L.), and Medical Research Council (MR/L016729/1 to C.L.A.).; 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 , 1289 . https://doi.org/10.1038/s41467-017-01429-z; ORCID: /0000-0003-4959-2310/work/39242765; ORCID: /0000-0001-7958-8262/work/39204920; ORCID: /0000-0002-1340-9732/work/39204922; ORCID: /0000-0002-6946-9195/work/39204879; http://hdl.handle.net/10138/228878; 1b15379f-1809-481c-b4bc-c90acf7b5f71; 85032790966; 000414376600010

الاتاحة: http://hdl.handle.net/10138/228878

المؤلفون: Laitinen, Eeva-Maria, Vaaralahti, Kirsi, Tommiska, Johanna, Eklund, Elina, Tervaniemi, Mari, Valanne, Leena, Raivio, Taneli

المساهمون: Department of Physiology, Clinicum, Medicum, Children's Hospital, Laboratory Animal Centre, Department of Diagnostics and Therapeutics, Raivio Group, HUS Children and Adolescents

مصطلحات موضوعية: IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM, GONADOTROPIN-RELEASING-HORMONE, GROWTH-FACTOR RECEPTOR-1, OF-FUNCTION MUTATIONS, CHARGE SYNDROME, DELAYED PUBERTY, PROTEIN, DEFICIENCY, GENES, CHD7, Genetics, developmental biology, physiology, Biomedicine

وصف الملف: application/pdf

Relation: Laitinen , E-M , Vaaralahti , K , Tommiska , J , Eklund , E , Tervaniemi , M , Valanne , L & Raivio , T 2011 , ' Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland ' , Orphanet journal of rare diseases , vol. 6 , pp. 41 . https://doi.org/10.1186/1750-1172-6-41; ORCID: /0000-0001-7958-8262/work/30014211; http://hdl.handle.net/10138/162343; 9a35b0f8-5755-457c-8c2c-172a3b5b6a26; 79958822377; 000293071100001

الاتاحة: http://hdl.handle.net/10138/162343

المؤلفون: Laitinen, Eeva-Maria, Tommiska, Johanna, Sane, Timo, Vaaralahti, Kirsi, Toppari, Jorma, Raivio, Taneli

المساهمون: Department of Physiology, Medicum, Children's Hospital, Clinicum, Endokrinologian yksikkö, Department of Medicine, Raivio Group, HUS Children and Adolescents

مصطلحات موضوعية: KALLMANN-SYNDROME, CHARGE SYNDROME, HORMONE RECEPTOR, LUTEINIZING-HORMONE, DELAYED PUBERTY, HOMOZYGOUS MUTATION, FERTILE EUNUCH, NEURAL CREST, GONADOTROPIN, TESTOSTERONE, Biomedicine

وصف الملف: application/pdf

Relation: Laitinen , E-M , Tommiska , J , Sane , T , Vaaralahti , K , Toppari , J & Raivio , T 2012 , ' Reversible Congenital Hypogonadotropic Hypogonadism in Patients with CHD7, FGFR1 or GNRHR Mutations ' , PLoS One , vol. 7 , no. 6 , pp. Article Number: e39450 . https://doi.org/10.1371/journal.pone.0039450; ORCID: /0000-0001-7958-8262/work/30014202; http://hdl.handle.net/10138/165771; 6639e1ef-f117-4cfa-8b5b-35d790aa8903; 84862549630; 000305652700080

الاتاحة: http://hdl.handle.net/10138/165771