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American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2019, Volume 179, Issue 3, pp. 503 - 506
Journal Article
Journal of the American Academy of Dermatology, ISSN 0190-9622, 05/2019
Journal Article
The FEBS Journal, ISSN 1742-464X, 07/2019, Volume 286, Issue 13, pp. 2505 - 2521
About 90% of congenital central hypoventilation syndrome (CCHS) patients show polyalanine triplet expansions in the coding region of transcription factor... 
CCHS | polyalanine expansion | PHOX2B | fibrils | CORE | CLUSTERS | REPEAT | EXPANSIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | FRAMESHIFT MUTATIONS | MECHANISMS | EXPRESSION | Atomic force microscopy | Analysis | Alanine | Pathogenesis | Light scattering | Circular dichroism | Proteins | Fibrillogenesis | Hypoventilation | Polyalanine | Microscopy | Dichroism | Spectrofluorimetry | Phox2b protein | Deoxyribonucleic acid--DNA
Journal Article
Molecular Biology of the Cell, ISSN 1059-1524, 06/2011, Volume 22, Issue 12, pp. 1971 - 1984
Nine human disorders result from the toxic accumulation and aggregation of proteins with expansions in their endogenous polyalanine (polyA) tracts. Given the... 
Toxicity | Cytotoxicity | polyalanine | mRNA
Journal Article
Journal Article
JOURNAL OF PHYSICAL CHEMISTRY B, ISSN 1520-6106, 10/2018, Volume 122, Issue 40, pp. 9373 - 9381
Poly-L-alanine (PLA) sequences are key elements of the crystalline domains of spider dragline and wild silkworm silks. In the present work, H-1 spin-diffusion... 
SHIFT | ANTI-PARALLEL | POLYALANINE | NUCLEAR-MAGNETIC-RESONANCE | DYNAMICS | CHEMISTRY, PHYSICAL | CRYSTALLOGRAPHY | SILK FIBROIN | TRIPEPTIDE | MAS | MULTIPLE-PULSE
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 06/2012, Volume 21, Issue 11, pp. 2464 - 2475
Synpolydactyly (SPD) is a distal limb anomaly characterized by incomplete digit separation and the presence of supernumerary digits in the syndactylous web.... 
Homeobox | Limbs | polyalanine | Mutation | Supernumerary | HOXD13 gene
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 1/2011, Volume 108, Issue 1, pp. 260 - 265
Journal Article
Neuron, ISSN 0896-6273, 11/2015, Volume 88, Issue 4, pp. 667 - 677
Journal Article
Molecular and Cellular Endocrinology, ISSN 0303-7207, 12/2018, Volume 478, pp. 133 - 140
SOX3, a transcription factor of the SRY-related high mobility group box family, has been implicated in the etiology of X-linked hypopituitarism. Here, we... 
SOX3 | Mutation | Growth hormone | Congenital hypopituitarism | COMPLEX | ENDOCRINOLOGY & METABOLISM | POLYALANINE TRACT | DUPLICATION | PITUITARY-HORMONE DEFICIENCY | CELL BIOLOGY
Journal Article