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Juha Kere

Human Molecular Genetics, Nature Genetics, Neuroscience, Diabetes, Annual review of genomics and human genetics, Acta Neurochirurgica Show more
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Role
Title
Level Year L/R
🐜 The origin of the major cystic fibrosis mutation (ΔF508) in European populations
33 auth. N. Morral, Jaume Bertranpetit, Xavier Estivill, V. Nunes, T. Casals, J. Giménez, André Reis, R. Varon‐Mateeva, Milan Macek, Milan Macek, Luba Kalaydjieva, D. Angelicheva, R. Dancheva, Giovanni Romeo, Maria Pia Russo, ... S. Garnerone, G. Restagno, Maurizio Ferrari, C. Magnani, M. Claustres, M. Desgeorges, M. Schwartz, Martin Schwarz, Bruno Dallapiccola, Giuseppe Novelli, Claude Férec, M. Arce, M. Nemeti, M. Nemeti, Juha Kere, Maria Anvret, Niklas Dahl, Ludovit Kadasi 		8 1994
8
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🐢 The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.
7 auth. Mònica Bayés, A. Hartung, S. Ezer, J. Pispa, I. Thesleff, Anand K. Srivastava, ... Juha Kere 		7 1998
7
🐢
🐬 Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy.
P. Salmikangas, Olli-Matti Mykkänen, M. Grönholm, L. Heiska, Juha Kere, Olli Carpén 		7 1999
7
🐬
🐜 DYX1C1 functions in neuronal migration in developing neocortex
11 auth. Yu Wang, Murugan Paramasivam, Ankur M. Thomas, J. Bai, Nina Kaminen-Ahola, Juha Kere, ... Juha Kere, J. Voskuil, Glenn D. Rosen, A. Galaburda, J. Loturco 		7 2006
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🐜 A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.
14 auth. Timo Otonkoski, Carina Ämmälä, H. Huopio, H. Huopio, Gilbert J. Cote, Joanna C. Chapman, K. Cosgrove, Rebecca Ashfield, Eileen Huang, Jorma Komulainen, ... Frances M Ashcroft, M. Dunne, Juha Kere, Pamela M. Thomas 		7 1999
7
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🐢 Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells.
S. Ezer, Mònica Bayés, O. Elomaa, D. Schlessinger, Juha Kere 		7 1999
7
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🐜 Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly.
21 auth. Stephen W.Scherer, Parvoneh Poorka], Hillary Massa, S. Soder, Todd M. Allen, M. Nunes, Dorrit Geshurl, Eddy Wong, Elena Bellonl, Stephen Little, ... Donna Becker, Juha Kere, Jaakko Ignatius, Norio Nllkawa, Yoshlmitsu Fukushlma, Tomonobu Hasegawa, Jean Weissenbach, Edoardo Boncinelli, Barbara J. Trask, Lap-Chee Tsui, James P.Evans 		7 1994
7
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🦁 Human population genetics: lessons from Finland.
Juha Kere 		6 2001
6
🦁
🐢 Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein.
O. Elomaa, Kati Pulkkinen, U. Hannelius, M. Mikkola, U. Saarialho-Kere, Juha Kere 		6 2001
6
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🐜 Long-Term Prognosis of Haemangioblastoma of the CNS: Impact of von Hippel-Lindau Disease
12 auth. Mika Niemelä, S. Lemeta, Paula Summanen, Tom Böhling, Markku Sainio, Juha Kere, ... K. Poussa, R. Sankila, Hannu Haapasalo, H. Kääriäinen, E. Pukkala, Juha E. Jääskeläinen 		6 1999
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