Search Results - "Tolonen, Jussi Pekka"

A long hypoxia-inducible factor 3 isoform 2 is a transcription activator that regulates erythropoietin by Tolonen, Jussi-Pekka, Heikkilä, Minna, Malinen, Marjo, Lee, Hang-Mao, Palvimo, Jorma J., Wei, Gong-Hong, Myllyharju, Johanna

“…Hypoxia-inducible factor (HIF), an αβ dimer, is the master regulator of oxygen homeostasis with hundreds of hypoxia-inducible target genes. Three HIF isoforms…”
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Reduced Bone Mass in Collagen Prolyl 4‐Hydroxylase P4ha1+/−; P4ha2−/− Compound Mutant Mice by Tolonen, Jussi‐Pekka, Salo, Antti M, Finnilä, Mikko, Aro, Ellinoora, Karjalainen, Emma, Ronkainen, Veli‐Pekka, Drushinin, Kati, Merceron, Christophe, Izzi, Valerio, Schipani, Ernestina, Myllyharju, Johanna

“…ABSTRACT Proper deposition of the extracellular matrix and its major components, the collagens, is essential for endochondral ossification and bone mass…”
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Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot–Marie–Tooth Neuropathy CMTX3 by Rahikkala, Elisa, Komulainen‐Ebrahim, Jonna, Tolonen, Jussi‐Pekka, Vorimo, Sandra, Suo‐Palosaari, Maria, Vieira, Päivi, Piispala, Johanna, Uusimaa, Johanna, Pylkäs, Katri, Mantere, Tuomo

“…ABSTRACT Background X‐linked recessive type 3 Charcot–Marie–Tooth (CMTX3) is a rare subtype of childhood‐onset CMT. To date, all reported CMTX3 patients share…”
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Medulloblastoma, macrocephaly, and a pathogenic germline PTEN variant: Cause or coincidence? by Tolonen, Jussi‐Pekka, Hekkala, Anne, Kuismin, Outi, Tuominen, Hannu, Suo‐Palosaari, Maria, Tynninen, Olli, Niinimäki, Riitta

“…Background Medulloblastomas (MBs) are a heterogeneous group of childhood brain tumors with four consensus subgroups, namely MBSHH, MBWNT, MBGroup 3, and…”
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Use of psychiatric medications in schizophrenia and other psychoses in a general population sample by Nykänen, Salla, Puska, Virpi, Tolonen, Jussi-Pekka, Salo, Henri, Isohanni, Matti, Koponen, Hannu, Pirkola, Sami, Penttilä, Matti, Haapea, Marianne, Moilanen, Jani, Miettunen, Jouko, Jääskeläinen, Erika

“…Abstract The information on the use of psychiatric medications in general population-based samples is limited. Our aim was to analyse the use of psychiatric…”
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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design by Tolonen, Jussi Pekka, Parolin Schnekenberg, Ricardo, McGowan, Simon, Sims, David, McEntagart, Meriel, Elmslie, Frances, Shears, Debbie, Stewart, Helen, Tofaris, George K., Dabir, Tabib, Morrison, Patrick J., Johnson, Diana, Hadjivassiliou, Marios, Ellard, Sian, Shaw‐Smith, Charles, Znaczko, Anna, Dixit, Abhijit, Suri, Mohnish, Sarkar, Ajoy, Harrison, Rachel E., Jones, Gabriela, Houlden, Henry, Ceravolo, Giorgia, Jarvis, Joanna, Williams, Jonathan, Shanks, Morag E., Clouston, Penny, Rankin, Julia, Blumkin, Lubov, Lerman‐Sagie, Tally, Ponger, Penina, Raskin, Salmo, Granath, Katariina, Uusimaa, Johanna, Conti, Hector, McCann, Emma, Joss, Shelagh, Blakes, Alexander J.M., Metcalfe, Kay, Kingston, Helen, Bertoli, Marta, Kneen, Rachel, Lynch, Sally Ann, Martínez Albaladejo, Inmaculada, Moore, Austen Peter, Jones, Wendy D., Becker, Esther B.E., Németh, Andrea H.

“…Background The ITPR1 gene encodes the inositol 1,4,5‐trisphosphate (IP3) receptor type 1 (IP3R1), a critical player in cerebellar intracellular calcium…”
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