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Evolution and expansion of the RUNX2 QA repeat corresponds with the emergence of vertebrate complexity.
- Published in:
- Communications Biology, 2020, v. 3, n. 1, p. 1, doi. 10.1038/s42003-020-01501-3
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- Article
Delineating elastic properties of kinesin linker and their sensitivity to point mutations.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-61399-z
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- Article
The genetics of congenital central hypoventilation syndrome: clinical implications.
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- Application of Clinical Genetics, 2018, v. 11, p. 135, doi. 10.2147/TACG.S140629
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- Article
Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12.
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- British Journal of Dermatology, 2018, v. 179, n. 5, p. 1135, doi. 10.1111/bjd.16893
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- Article
Single-layer solar cell based on nanostructure of polyaniline on fluorine-doped tin oxide: a simple, low-cost and efficient FTO│n-PANI│Al cell.
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- Journal of the Iranian Chemical Society, 2018, v. 15, n. 4, p. 967, doi. 10.1007/s13738-018-1294-2
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- Article
A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I.
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- Cellular Physiology & Biochemistry (Karger AG), 2018, v. 45, n. 1, p. 203, doi. 10.1159/000486358
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- Article
RUNX2 repeat variation does not drive craniofacial diversity in marsupials.
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- BMC Evolutionary Biology, 2017, v. 17, p. 1, doi. 10.1186/s12862-017-0955-6
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- Article
Association of FOXE1 polyalanine repeat region with thyroid cancer is dependent on tumour size.
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- Clinical Endocrinology, 2017, v. 86, n. 2, p. 243, doi. 10.1111/cen.13166
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- Article
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.
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- Thyroid, 2017, v. 27, n. 2, p. 224, doi. 10.1089/thy.2015.0541
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- Article
Polyalanine - a practical polypeptide mass calibration standard for matrix-assisted laser desorption/ionization mass spectrometry and tandem mass spectrometry in positive and negative mode.
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- 2016
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- Publication type:
- Other
Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 473, doi. 10.1038/jhg.2015.65
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- Article
Synthesis, characterization, and in vitro drug release study of 3-arm poly-β-alanine.
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- Journal of Applied Polymer Science, 2015, v. 132, n. 25, p. n/a, doi. 10.1002/app.42124
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- Article
Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 3, p. 203, doi. 10.1002/mgg3.133
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- Article
Functional classification and mutation analysis of a synpolydactyly kindred.
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- Experimental & Therapeutic Medicine, 2014, v. 8, n. 5, p. 1569, doi. 10.3892/etm.2014.1957
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- Article
Electronic structure and first hyperpolarizability of poly( μ- l-alanine- μ-sodium nitrate (I)) crystals.
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- Bulletin of Materials Science, 2014, v. 37, n. 6, p. 1471, doi. 10.1007/s12034-014-0098-y
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- Article
CONTROL OF THE GELATION PROCESS OF SILK FIBROIN SOLUTION.
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- Thermal Science, 2014, v. 18, n. 5, p. 1587, doi. 10.2298/TSCI1405587L
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- Article
Blends of poly(3-hydroxybutyrate) with poly(β-alanine) and its derivatives.
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- Journal of Applied Polymer Science, 2014, v. 131, n. 13, p. n/a, doi. 10.1002/app.40484
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- Article
PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population.
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- International Journal of Legal Medicine, 2014, v. 128, n. 4, p. 621, doi. 10.1007/s00414-013-0962-0
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- Article
Arx Polyalanine Expansion in Mice Leads to Reduced Pancreatic α-Cell Specification and Increased α-Cell Death.
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- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0078741
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- Article
Identification and dynamics of polyglycine II nanocrystals in Argiope trifasciata flagelliform silk.
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- Scientific Reports, 2013, p. 1, doi. 10.1038/srep03061
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- Publication type:
- Article
Molecular and Gene Network Analysis of Thyroid Transcription Factor 1 (TTF1) and Enhanced at Puberty (EAP1) Genes in Patients with GnRH-Dependent Pubertal Disorders.
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- Hormone Research in Paediatrics, 2013, v. 80, n. 4, p. 257, doi. 10.1159/000354643
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- Publication type:
- Article
Polyalanine Repeat Polymorphism in <i>RUNX2</i> Is Associated with Site-Specific Fracture in Post-Menopausal Females.
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- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0072740
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- Article
Contribution of the empirical dispersion correction on the conformation of short alanine peptides obtained by gas-phase QM calculations.
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- Canadian Journal of Chemistry, 2013, v. 91, n. 9, p. 859, doi. 10.1139/cjc-2012-0542
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- Article
Photoluminescence decay time studies on ZnS in cubic and hexagonal phase and its mechanico-chemical interaction with polyaniline.
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- Physica Status Solidi (B), 2013, v. 250, n. 7, p. 1426, doi. 10.1002/pssb.201248234
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- Article
Peptide Folding Problem: A Molecular Dynamics Study on Polyalanines Using Different Force Fields.
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- International Journal of Peptide Research & Therapeutics, 2013, v. 19, n. 2, p. 117, doi. 10.1007/s10989-012-9322-z
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- Article
Misfolding of a polyalanine variant due to lack of electrostatic polarization effects.
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- Theoretical Chemistry Accounts: Theory, Computation, & Modeling, 2013, v. 132, n. 5, p. 1, doi. 10.1007/s00214-013-1354-8
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- Article
Mechanistic Insight into the Pathology of Polyalanine Expansion Disorders Revealed by a Mouse Model for X Linked Hypopituitarism.
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- PLoS Genetics, 2013, v. 9, n. 3, p. 1, doi. 10.1371/journal.pgen.1003290
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- Article
Enzyme-Degradable Self-Assembled Hydrogels From Polyalanine-Modified Poly(ethylene glycol) Star Polymers.
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- Macromolecular Rapid Communications, 2013, v. 34, n. 3, p. 257, doi. 10.1002/marc.201200649
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- Article
Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?
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- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1311, doi. 10.1038/ejhg.2012.61
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- Article
The combination of polyalanine expansion mutation and a novel missense substitution in transcription factor FOXL2 leads to different ovarian phenotypes in blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) patients.
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- Human Reproduction, 2012, v. 27, n. 11, p. 3347, doi. 10.1093/humrep/des306
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- Article
Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression.
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- Journal of Clinical Investigation, 2012, v. 122, n. 9, p. 3145, doi. 10.1172/JCI63401
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- Article
The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B.
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- Journal of Molecular Medicine, 2012, v. 90, n. 9, p. 1025, doi. 10.1007/s00109-012-0868-1
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- Article
Expression of the polyalanine expansion mutant of nuclear poly(A)-binding protein induces apoptosis via the p53 pathway.
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- Cell Biology International, 2012, v. 36, n. 8, p. 697, doi. 10.1042/CBI20110348
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- Article
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.
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- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042617
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- Article
Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome.
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- Journal of Human Genetics, 2012, v. 57, n. 5, p. 335, doi. 10.1038/jhg.2012.27
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- Publication type:
- Article
Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy.
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- Journal of Neurology, 2012, v. 259, n. 5, p. 833, doi. 10.1007/s00415-011-6255-y
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- Publication type:
- Article
The mechanism of antiparallel β-sheet formation based on conditioned self-avoiding walk.
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- European Physical Journal E -- Soft Matter, 2012, v. 35, n. 4, p. 1, doi. 10.1140/epje/i2012-12027-8
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- Publication type:
- Article
FOXE1 polyalanine tract length screening by MLPA in idiopathic premature ovarian failure.
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- Reproductive Biology & Endocrinology, 2011, v. 9, n. 1, p. 158, doi. 10.1186/1477-7827-9-158
- Publication type:
- Article