Rehabilitimi në patologjitë e rralla. Sindroma coffin+siris.
Abstrakti
Sindroma Coffin-Siris është një sëmundje e rrallë gjenetike me variante heterozigote në gjenet ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCE1 ose SOX11. Mund të manifestohet me anomali somatike, shurdhim, keqformime urogjenitale, vonesë mendore, deficit të të folurit, agjenezë të korpusit kallosum, konvulsione, hypotoni, vonesë zhvillimi, skoliozë dhe infeksione te perseritshme.
Fjalët kyçe:
ARID1A, sindroma Coffin-Siris, rehabilitimi i sjelljes, rehabilitimi kognitiv, sëmundje e rrallë gjenetikeShkarkimet
References
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-Fernanda Martin Merlez, María González Zalazar, Silvia Castillo Taucher, Frameshift Variant in ARID2 in a Chilean Individual with Coffin–Siris Syndrome Phenotype, Journal of Pediatric Genetics, 10.1055/s-0041-1740531, (2021).
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-Julia Varga, Marie Kube, Katja Luck, Sandra Schick, The BAF chromatin remodeling complexes: structure, function, and synthetic lethalities, Biochemical Society Transactions, 10.1042/BST20190960, 49, 4, (1489-1503), (2021).
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-Luca Pagliaroli, Patrizia Porazzi, Alyxandra T. Curtis, Chiara Scopa, Harald M. M. Mikkers, Christian Freund, Lucia Daxinger, Sandra Deliard, Sarah A. Welsh, Sarah Offley, Connor A. Ott, Bruno Calabretta, Samantha A. Brugmann, Gijs W. E. Santen, Marco Trizzino, Inability to
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switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders, Nature Communications, 10.1038/s41467-021-26810-x, 12, 1, (2021).
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-Britta Hanker, Gabriele Gillessen-Kaesbach, Irina Hüning, Hermann-Josef Lüdecke, Dagmar Wieczorek, Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant, European Journal of Human Genetics, 10.1038/s41431-021-00865-2,
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, 1, (126-132), (2021).
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-Jie Wang, Hai-Bo Yan, Qian Zhang, Wei-Yan Liu, Ying-Hua Jiang, Gang Peng, Fei-Zhen Wu, Xin Liu, Peng-Yuan Yang, Feng Liu, Enhancement of E-cadherin expression and processing and driving of cancer cell metastasis by ARID1A deficiency, Oncogene, 10.1038/s41388-021-
-
-2, 40, 36, (5468-5481), (2021).
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-Jaclyn A. Biegel, Jacquelyn J. Roth, Rhabdoid Tumors, The Hereditary Basis of Childhood Cancer, 10.1007/978-3-030-74448-9_3, (55-76), (2021).
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-Yue Yang, Tomoko Yamada, Azad Bonni, Epigenetic Regulation of the Cerebellum, Handbook of the Cerebellum and Cerebellar Disorders, 10.1007/978-3-030-23810-0_110, (409-428), (2021).
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-Dong Li, Helen Downes, Cuiping Hou, Hakon Hakonarson, Elaine H. Zackai, Samantha A. Schrier Vergano, Elizabeth J. Bhoj, Further supporting ‐related neurodevelopmental disorder through exome analysis and reanalysis in two patients, American Journal of Medical Genetics
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Part A, 10.1002/ajmg.a.62597, 188, 3, (878-882), (2021).
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-Shirley S. W. Cheng, Ho‐Ming Luk, Myth Tsz‐Shun Mok, Sha‐Sha Leung, Ivan F. M. Lo, Genotype and phenotype in 18 Chinese patients with Coffin‐Siris syndrome, American Journal of Medical Genetics Part A, 10.1002/ajmg.a.62187, 185, 7, (2250-2261), (2021).
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-Tomoki Kosho, Noriko Miyake, COFFIN–SIRIS SYNDROME, Cassidy and Allanson’s Management of Genetic Syndromes, 10.1002/9781119432692.ch13, (185-194), (2021)
References
-Fernanda Martin Merlez, María González Zalazar, Silvia Castillo Taucher, Frameshift Variant in ARID2 in a Chilean Individual with Coffin–Siris Syndrome Phenotype, Journal of Pediatric Genetics, 10.1055/s-0041-1740531, (2021).
-Julia Varga, Marie Kube, Katja Luck, Sandra Schick, The BAF chromatin remodeling complexes: structure, function, and synthetic lethalities, Biochemical Society Transactions, 10.1042/BST20190960, 49, 4, (1489-1503), (2021).
-Luca Pagliaroli, Patrizia Porazzi, Alyxandra T. Curtis, Chiara Scopa, Harald M. M. Mikkers, Christian Freund, Lucia Daxinger, Sandra Deliard, Sarah A. Welsh, Sarah Offley, Connor A. Ott, Bruno Calabretta, Samantha A. Brugmann, Gijs W. E. Santen, Marco Trizzino, Inability to
switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders, Nature Communications, 10.1038/s41467-021-26810-x, 12, 1, (2021).
-Britta Hanker, Gabriele Gillessen-Kaesbach, Irina Hüning, Hermann-Josef Lüdecke, Dagmar Wieczorek, Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant, European Journal of Human Genetics, 10.1038/s41431-021-00865-2,
, 1, (126-132), (2021).
-Jie Wang, Hai-Bo Yan, Qian Zhang, Wei-Yan Liu, Ying-Hua Jiang, Gang Peng, Fei-Zhen Wu, Xin Liu, Peng-Yuan Yang, Feng Liu, Enhancement of E-cadherin expression and processing and driving of cancer cell metastasis by ARID1A deficiency, Oncogene, 10.1038/s41388-021-
-2, 40, 36, (5468-5481), (2021).
-Jaclyn A. Biegel, Jacquelyn J. Roth, Rhabdoid Tumors, The Hereditary Basis of Childhood Cancer, 10.1007/978-3-030-74448-9_3, (55-76), (2021).
-Yue Yang, Tomoko Yamada, Azad Bonni, Epigenetic Regulation of the Cerebellum, Handbook of the Cerebellum and Cerebellar Disorders, 10.1007/978-3-030-23810-0_110, (409-428), (2021).
-Dong Li, Helen Downes, Cuiping Hou, Hakon Hakonarson, Elaine H. Zackai, Samantha A. Schrier Vergano, Elizabeth J. Bhoj, Further supporting ‐related neurodevelopmental disorder through exome analysis and reanalysis in two patients, American Journal of Medical Genetics
Part A, 10.1002/ajmg.a.62597, 188, 3, (878-882), (2021).
-Shirley S. W. Cheng, Ho‐Ming Luk, Myth Tsz‐Shun Mok, Sha‐Sha Leung, Ivan F. M. Lo, Genotype and phenotype in 18 Chinese patients with Coffin‐Siris syndrome, American Journal of Medical Genetics Part A, 10.1002/ajmg.a.62187, 185, 7, (2250-2261), (2021).
-Tomoki Kosho, Noriko Miyake, COFFIN–SIRIS SYNDROME, Cassidy and Allanson’s Management of Genetic Syndromes, 10.1002/9781119432692.ch13, (185-194), (2021)
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