Works matching DE "POLYALANINE"

Results: 39
    1
    2
    3
    4
    5
    6

    Genotype Analyses in the Japanese and Belarusian Populations Reveal Independent Effects of rs965513 and rs1867277 but Do Not Support the Role of FOXE1 Polyalanine Tract Length in Conferring Risk for Papillary Thyroid Carcinoma.

    Published in:
    Thyroid, 2017, v. 27, n. 2, p. 224, doi. 10.1089/thy.2015.0541
    By:
    • Nikitski, Alyaksandr V.;
    • Rogounovitch, Tatiana I.;
    • Bychkov, Andrey;
    • Takahashi, Meiko;
    • Yoshiura, Koh-ichiro;
    • Mitsutake, Norisato;
    • Kawaguchi, Takahisa;
    • Matsuse, Michiko;
    • Drozd, Valentina M.;
    • Demidchik, Yuri;
    • Nishihara, Eijun;
    • Hirokawa, Mitsuyoshi;
    • Miyauchi, Akira;
    • Rubanovich, Alexander V.;
    • Matsuda, Fumihiko;
    • Yamashita, Shunichi;
    • Saenko, Vladimir A.
    Publication type:
    Article
    7
    8
    9

    RUNX2 is an essential transcription factor required for skeletal development and cartilage formation. Haploinsufficiency of RUNX2 leads to cleidocranial displaysia (CCD) a skeletal disorder characterised by gross dysgenesis of bones particularly those derived from intramembranous bone formation. A notable feature of the RUNX2 protein is the polyglutamine and polyalanine (23Q/17A) domain coded by a repeat sequence. Since none of the known mutations causing CCD characterised to date map in the glutamine repeat region, we hypothesised that Q-repeat mutations may be related to a more subtle bone phenotype. We screened subjects derived from four normal populations for Q- repeat variants. A total of 22 subjects were identified who were heterozygous for a wild type allele and a Q-repeat variant allele: (15Q, 16Q, 18Q and 30Q). Although not every subject had data for all measures, Q-repeat variants had a significant deficit in BMD with an average decrease of 0.7SD measured over 12 BMD-related parameters (p = 0.005). Femoral neck BMD was measured in all subjects (--0.6SD, p = 0.0007). The transactivation function of RUNX2 was determined for 16Q and 30Q alleles using a reporter gene assay. 16Q and 30Q alleles displayed significantly lower transactivation function compared to wild type (23Q). Our analysis has identified novel Q-repeat mutations that occur at a collective frequency of about 0.4%. These mutations significantly alter BMD and display impaired transactivation function, introducing a new class of functionally relevant RUNX2 mutants.

    Published in:
    PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042617
    By:
    • Morrison, Nigel A.;
    • Stephens, Alexandre A.;
    • Osato, Motomi;
    • Polly, Patsie;
    • Tan, Timothy C.;
    • Yamashita, Namiko;
    • Doecke, James D.;
    • Pasco, Julie;
    • Fozzard, Nicolette;
    • Jones, Graeme;
    • Ralston, Stuart H.;
    • Sambrook, Philip N.;
    • Prince, Richard L.;
    • Nicholson, Geoff C.;
    • Laird, Elizabeth G.
    Publication type:
    Article
    10
    11
    12
    13
    14
    15
    16
    17
    18
    19
    20

    Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.

    Published in:
    Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 3, p. 203, doi. 10.1002/mgg3.133
    By:
    • Marques, Isabel;
    • Sá, Maria João;
    • Soares, Gabriela;
    • Mota, Maria do Céu;
    • Pinheiro, Carla;
    • Aguiar, Lisa;
    • Amado, Marta;
    • Soares, Christina;
    • Calado, Angelina;
    • Dias, Patrícia;
    • Sousa, Ana Berta;
    • Fortuna, Ana Maria;
    • Santos, Rosário;
    • Howell, Katherine B.;
    • Ryan, Monique M.;
    • Leventer, Richard J;
    • Sachdev, Rani;
    • Catford, Rachael;
    • Friend, Kathryn;
    • Mattiske, Tessa R.
    Publication type:
    Article
    21
    22
    23
    24
    25

    Molecular and Gene Network Analysis of Thyroid Transcription Factor 1 (TTF1) and Enhanced at Puberty (EAP1) Genes in Patients with GnRH-Dependent Pubertal Disorders.

    Published in:
    Hormone Research in Paediatrics, 2013, v. 80, n. 4, p. 257, doi. 10.1159/000354643
    By:
    • Cukier, Priscilla;
    • Wright, Hollis;
    • Rulfs, Tomke;
    • Silveira, Leticia Ferreira Gontijo;
    • Teles, Milena Gurgel;
    • Mendonca, Berenice Bilharinho;
    • arnhold, Ivo J.P.;
    • Heger, Sabine;
    • Latronico, ana Claudia;
    • Ojeda, Sergio R.;
    • Brito, Vinicius Nahime
    Publication type:
    Article
    26
    27
    28
    29
    30
    31
    32
    33
    34
    35
    36
    37
    38
    39