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2008 1
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2014 3
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2016 3
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2018 4
2019 2
2020 3
2022 1
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Page 1
STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone.
Gamage TH, Lengle E, Gunnes G, Pullisaar H, Holmgren A, Reseland JE, Merckoll E, Corti S, Mizobuchi M, Morales RJ, Tsiokas L, Tjønnfjord GE, Lacruz RS, Lyngstadaas SP, Misceo D, Frengen E. Gamage TH, et al. Among authors: holmgren a. Cell Calcium. 2020 Jan;85:102110. doi: 10.1016/j.ceca.2019.102110. Epub 2019 Nov 13. Cell Calcium. 2020. PMID: 31785581 Free article.
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Epting D, Senaratne LDS, Ott E, Holmgren A, Sumathipala D, Larsen SM, Wallmeier J, Bracht D, Frikstad KM, Crowley S, Sikiric A, Barøy T, Käsmann-Kellner B, Decker E, Decker C, Bachmann N, Patzke S, Phelps IG, Katsanis N, Giles R, Schmidts M, Zucknick M, Lienkamp SS, Omran H, Davis EE, Doherty D, Strømme P, Frengen E, Bergmann C, Misceo D. Epting D, et al. Among authors: holmgren a. Hum Mutat. 2020 Dec;41(12):2179-2194. doi: 10.1002/humu.24127. Epub 2020 Nov 1. Hum Mutat. 2020. PMID: 33131181 Free PMC article.
STIM1 R304W causes muscle degeneration and impaired platelet activation in mice.
Gamage TH, Gunnes G, Lee RH, Louch WE, Holmgren A, Bruton JD, Lengle E, Kolstad TRS, Revold T, Amundsen SS, Dalen KT, Holme PA, Tjønnfjord GE, Christensen G, Westerblad H, Klungland A, Bergmeier W, Misceo D, Frengen E. Gamage TH, et al. Among authors: holmgren a. Cell Calcium. 2018 Dec;76:87-100. doi: 10.1016/j.ceca.2018.10.001. Epub 2018 Oct 5. Cell Calcium. 2018. PMID: 30390422 Free PMC article.
Elevated expression of a minor isoform of ANK3 is a risk factor for bipolar disorder.
Hughes T, Sønderby IE, Polushina T, Hansson L, Holmgren A, Athanasiu L, Melbø-Jørgensen C, Hassani S, Hoeffding LK, Herms S, Bergen SE, Karlsson R, Song J, Rietschel M, Nöthen MM, Forstner AJ, Hoffmann P, Hultman CM, Landén M, Cichon S, Werge T, Andreassen OA, Le Hellard S, Djurovic S. Hughes T, et al. Among authors: holmgren a. Transl Psychiatry. 2018 Oct 8;8(1):210. doi: 10.1038/s41398-018-0175-x. Transl Psychiatry. 2018. PMID: 30297702 Free PMC article.
A dominant STIM1 mutation causes Stormorken syndrome.
Misceo D, Holmgren A, Louch WE, Holme PA, Mizobuchi M, Morales RJ, De Paula AM, Stray-Pedersen A, Lyle R, Dalhus B, Christensen G, Stormorken H, Tjønnfjord GE, Frengen E. Misceo D, et al. Among authors: holmgren a. Hum Mutat. 2014 May;35(5):556-64. doi: 10.1002/humu.22544. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24619930
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.
Ansar M, Riazuddin S, Sarwar MT, Makrythanasis P, Paracha SA, Iqbal Z, Khan J, Assir MZ, Hussain M, Razzaq A, Polla DL, Taj AS, Holmgren A, Batool N, Misceo D, Iwaszkiewicz J, de Brouwer APM, Guipponi M, Hanquinet S, Zoete V, Santoni FA, Frengen E, Ahmed J, Riazuddin S, van Bokhoven H, Antonarakis SE. Ansar M, et al. Among authors: holmgren a. Genet Med. 2018 Jul;20(7):778-784. doi: 10.1038/gim.2017.113. Epub 2017 Aug 24. Genet Med. 2018. PMID: 28837161 Free article.
Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration.
Strømme P, Groeneweg S, Lima de Souza EC, Zevenbergen C, Torgersbråten A, Holmgren A, Gurcan E, Meima ME, Peeters RP, Visser WE, Høneren Johansson L, Babovic A, Zetterberg H, Heuer H, Frengen E, Misceo D, Visser TJ. Strømme P, et al. Among authors: holmgren a. Thyroid. 2018 Nov;28(11):1406-1415. doi: 10.1089/thy.2018.0595. Thyroid. 2018. PMID: 30296914
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.
Pedurupillay CR, Amundsen SS, Barøy T, Rasmussen M, Blomhoff A, Stadheim BF, Ørstavik K, Holmgren A, Iqbal T, Frengen E, Misceo D, Strømme P. Pedurupillay CR, et al. Among authors: holmgren a. Neuromuscul Disord. 2016 Sep;26(9):570-5. doi: 10.1016/j.nmd.2016.06.457. Epub 2016 Jun 22. Neuromuscul Disord. 2016. PMID: 27450922 Free article.
18 results