Artigos de revistas sobre o tema "Collagen variants"
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Richards, Allan J., e Martin P. Snead. "Molecular Basis of Pathogenic Variants in the Fibrillar Collagens". Genes 13, n.º 7 (4 de julho de 2022): 1199. http://dx.doi.org/10.3390/genes13071199.
Texto completo da fonteKoch, M., B. Bohrmann, M. Matthison, C. Hagios, B. Trueb e M. Chiquet. "Large and small splice variants of collagen XII: differential expression and ligand binding." Journal of Cell Biology 130, n.º 4 (15 de agosto de 1995): 1005–14. http://dx.doi.org/10.1083/jcb.130.4.1005.
Texto completo da fonteNishi, Akari, Hikaru Matsui, Azumi Hirata, Atsushi Mukaiyama, Shun-ichi Tanaka, Takuya Yoshizawa, Hiroyoshi Matsumura, Ryota Nomura, Kazuhiko Nakano e Kazufumi Takano. "Structure, Stability and Binding Properties of Collagen-Binding Domains from Streptococcus mutans". Chemistry 5, n.º 3 (1 de setembro de 2023): 1911–20. http://dx.doi.org/10.3390/chemistry5030130.
Texto completo da fonteFlood, Veronica H., Abraham C. Schlauderaff, Paula M. Jacobi, Tricia L. Slobodianuk, Robert R. Montgomery, Sandra L. Haberichter e The Zimmerman Program Investigators. "VWF Interaction With Type IV Collagen Is Mediated Through Critical VWF A1 Domain Residues". Blood 122, n.º 21 (15 de novembro de 2013): 29. http://dx.doi.org/10.1182/blood.v122.21.29.29.
Texto completo da fonteMikhail, Kristen A., Elizabeth VanSickle e Linda Z. Rossetti. "Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant inP3H1—further expansion of the phenotypic spectrum". Molecular Case Studies 9, n.º 1 (fevereiro de 2023): a006260. http://dx.doi.org/10.1101/mcs.a006260.
Texto completo da fonteMicale, Lucia, Silvia Morlino, Annalisa Schirizzi, Emanuele Agolini, Grazia Nardella, Carmela Fusco, Stefano Castellana et al. "Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia". Genes 11, n.º 12 (17 de dezembro de 2020): 1513. http://dx.doi.org/10.3390/genes11121513.
Texto completo da fonteShida, Yasuaki, Christine Brown, Jeff Mewburn, Kate Sponagle, Ozge Danisment, Barbara Vidal, Carol A. Heagadorn e David Lillicrap. "Comprehensive In Vitro and In Vivo Characterization of Loss and Gain-of-Function Von Willebrand Factor Collagen Binding Variants Using a Mouse Model System",. Blood 118, n.º 21 (18 de novembro de 2011): 3266. http://dx.doi.org/10.1182/blood.v118.21.3266.3266.
Texto completo da fonteLópez-Márquez, Arístides, Matías Morín, Sergio Fernández-Peñalver, Carmen Badosa, Alejandro Hernández-Delgado, Daniel Natera-de Benito, Carlos Ortez et al. "CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts". International Journal of Molecular Sciences 23, n.º 8 (16 de abril de 2022): 4410. http://dx.doi.org/10.3390/ijms23084410.
Texto completo da fonteZhytnik, Lidiia, Binh Ho Duy, Marelise Eekhoff, Lisanne Wisse, Gerard Pals, Ene Reimann, Sulev Kõks et al. "Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant". Genes 13, n.º 3 (24 de fevereiro de 2022): 407. http://dx.doi.org/10.3390/genes13030407.
Texto completo da fonteJäälinoja, Juha, Joni Ylöstalo, William Beckett, David J. S. Hulmes e Leena Ala-Kokko. "Trimerization of collagen IX α-chains does not require the presence of the COL1 and NC1 domains". Biochemical Journal 409, n.º 2 (21 de dezembro de 2007): 545–54. http://dx.doi.org/10.1042/bj20070984.
Texto completo da fonteNixon, Thomas R. W., Allan J. Richards, Howard Martin, Philip Alexander e Martin P. Snead. "Autosomal Recessive Stickler Syndrome". Genes 13, n.º 7 (24 de junho de 2022): 1135. http://dx.doi.org/10.3390/genes13071135.
Texto completo da fonteHayashi, Kaichi, Takeaki Ikeuchi, Ryo Morishita, Jun Qian, Kenji Kojima, Teisuke Takita, Keisuke Tanaka, Shunji Hattori e Kiyoshi Yasukawa. "The roles of histidine and tyrosine residues in the active site of collagenase in Grimontia hollisae". Journal of Biochemistry 168, n.º 4 (9 de maio de 2020): 385–92. http://dx.doi.org/10.1093/jb/mvaa055.
Texto completo da fonteCastroflorio, Enrico, Ana Joaquina Pérez Berná, Arístides López-Márquez, Carmen Badosa, Pablo Loza-Alvarez, Mónica Roldán e Cecilia Jiménez-Mallebrera. "The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy". International Journal of Molecular Sciences 23, n.º 14 (11 de julho de 2022): 7651. http://dx.doi.org/10.3390/ijms23147651.
Texto completo da fontePadmanabha, Hansashree, Gautham Arunachal, Pratik Kishore, P. Praveen Sharma, Pooja Mailankody, Rohan R. Mahale, Saraswati Nashi, PS Mathuranath e Sadanandavalli R. Chandra. "Collagen XII-Related Myopathy: An Emerging Spectrum of Extracellular Matrix-Related Myopathy". Neurology India 71, n.º 6 (2023): 1257–59. http://dx.doi.org/10.4103/0028-3886.391402.
Texto completo da fonteBauer, Anina, John F. Bateman, Shireen R. Lamandé, Eric Hanssen, Shannon G. M. Kirejczyk, Mark Yee, Ali Ramiche et al. "Identification of Two Independent COL5A1 Variants in Dogs with Ehlers–Danlos Syndrome". Genes 10, n.º 10 (21 de setembro de 2019): 731. http://dx.doi.org/10.3390/genes10100731.
Texto completo da fonteTohar, Ran, Tamar Ansbacher, Inbal Sher, Livnat Afriat-Jurnou, Evgeny Weinberg e Maayan Gal. "Screening Collagenase Activity in Bacterial Lysate for Directed Enzyme Applications". International Journal of Molecular Sciences 22, n.º 16 (9 de agosto de 2021): 8552. http://dx.doi.org/10.3390/ijms22168552.
Texto completo da fonteHaberichter, Sandra L., David A. Jakab e Paula M. Jacobi. "Upstream Mechanisms Causing Type 1C Von Willebrand Disease (VWD): Contribution Of Defective Von Willebrand Factor (VWF) Multimerization, Regulated Storage, and Secretion". Blood 122, n.º 21 (15 de novembro de 2013): 3571. http://dx.doi.org/10.1182/blood.v122.21.3571.3571.
Texto completo da fonteZekavat, Seyedeh Maryam, Elizabeth L. Chou, Melica Zekavat, Akhil Pampana, Kaavya Paruchuri, Christian Lacks Lino Cardenas, Satoshi Koyama et al. "Fibrillar Collagen Variants in Spontaneous Coronary Artery Dissection". JAMA Cardiology 7, n.º 4 (1 de abril de 2022): 396. http://dx.doi.org/10.1001/jamacardio.2022.0001.
Texto completo da fonteMarinella, Gemma, Guja Astrea, Bianca Buchignani, Denise Cassandrini, Stefano Doccini, Massimiliano Filosto, Daniele Galatolo et al. "A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing". International Journal of Molecular Sciences 23, n.º 23 (23 de novembro de 2022): 14567. http://dx.doi.org/10.3390/ijms232314567.
Texto completo da fonteKiener, Sarah, Heather Troyer, Daniel Ruvolo, Paula Grest, Sara Soto, Anna Letko, Vidhya Jagannathan et al. "Independent COL17A1 Variants in Cats with Junctional Epidermolysis Bullosa". Genes 14, n.º 10 (22 de setembro de 2023): 1835. http://dx.doi.org/10.3390/genes14101835.
Texto completo da fonteSelvam, Pavalan, Shekhar Singh, Angita Jain, Herjot Atwal e Paldeep S. Atwal. "Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature". Journal of Pediatric Genetics 09, n.º 02 (16 de outubro de 2019): 117–20. http://dx.doi.org/10.1055/s-0039-1698446.
Texto completo da fonteKiener, Sarah, Neoklis Apostolopoulos, Jennifer Schissler, Pascal-Kolja Hass, Fabienne Leuthard, Vidhya Jagannathan, Carole Schuppisser et al. "Independent COL5A1 Variants in Cats with Ehlers-Danlos Syndrome". Genes 13, n.º 5 (29 de abril de 2022): 797. http://dx.doi.org/10.3390/genes13050797.
Texto completo da fonteO'Connell, Kevin, Michael Posthumus e Malcolm Collins. "Collagen gene interactions and endurance running performance". South African Journal of Sports Medicine 26, n.º 1 (20 de março de 2014): 9. http://dx.doi.org/10.17159/2413-3108/2014/v26i1a404.
Texto completo da fonteBrown, J. C., K. Mann, H. Wiedemann e R. Timpl. "Structure and binding properties of collagen type XIV isolated from human placenta." Journal of Cell Biology 120, n.º 2 (15 de janeiro de 1993): 557–67. http://dx.doi.org/10.1083/jcb.120.2.557.
Texto completo da fonteBruni, Valentina, Cristina Barbara Spoleti, Andrea La Barbera, Vincenzo Dattilo, Emma Colao, Carmela Votino, Emanuele Bellacchio, Nicola Perrotti, Sabrina Giglio e Rodolfo Iuliano. "A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions". Genes 12, n.º 9 (10 de setembro de 2021): 1395. http://dx.doi.org/10.3390/genes12091395.
Texto completo da fonteShulman, Cole, Emerald Liang, Misato Kamura, Khalil Udwan, Tony Yao, Daniel Cattran, Heather Reich et al. "Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants". Kidney Medicine 3, n.º 2 (março de 2021): 257–66. http://dx.doi.org/10.1016/j.xkme.2020.12.007.
Texto completo da fontePowell, Janet T., Jane Adamson, Shane T. R. MacSweeney, Roger M. Greenhalgh, Steven E. Humphries e Adriano Henney. "Genetic variants of collagen III and abdominal aortic aneurysm". European Journal of Vascular Surgery 5, n.º 2 (abril de 1991): 145–48. http://dx.doi.org/10.1016/s0950-821x(05)80679-6.
Texto completo da fonteSykes, B., D. Ogilvie, P. Wordsworth e R. Smith. "Polymorphic variants of the human type II collagen gene". Bone 7, n.º 2 (janeiro de 1986): 150. http://dx.doi.org/10.1016/8756-3282(86)90705-2.
Texto completo da fonteDada, Suhail, Marilize C. Burger, Franka Massij, Hanli de Wet e Malcolm Collins. "Carpal tunnel syndrome: The role of collagen gene variants". Gene 587, n.º 1 (agosto de 2016): 53–58. http://dx.doi.org/10.1016/j.gene.2016.04.030.
Texto completo da fonteLanktree, Matthew B., Amirreza Haghighi, Saima Khowaja, Ioan-Andrei Iliuta, Andrew Paterson e York P. Pei. "Type IV Collagen Variants in Patients With Polycystic Kidneys". Journal of the American Society of Nephrology 33, n.º 11S (novembro de 2022): 152. http://dx.doi.org/10.1681/asn.20223311s1152a.
Texto completo da fonteShulman, Cole, Emerald Liang, Misato Kamura, Khalil Udwan, Tony Yao, Daniel C. Cattran, Heather N. Reich et al. "In Silico Prediction Performance for Type IV Collagen Variants". Journal of the American Society of Nephrology 31, n.º 10S (outubro de 2020): 526–27. http://dx.doi.org/10.1681/asn.20203110s1526d.
Texto completo da fonteGraves, Lara E., Christie-Lee Wall, Julie N. Briody, Bruce Bennetts, Karen Wong, Ella Onikul, Andrew Biggin e Craig F. Munns. "High Bone Mineral Density Osteogenesis Imperfecta in a Family with a Novel Pathogenic Variant in COL1A2". Hormone Research in Paediatrics 93, n.º 4 (2020): 263–71. http://dx.doi.org/10.1159/000510463.
Texto completo da fonteTang, Man-Hung Eric, Joseph P. M. Blair, Cecilie Liv Bager, Anne-Christine Bay-Jensen, Kim Henriksen, Claus Christiansen e Morten Asser Karsdal. "Matrix metalloproteinase-degraded type I collagen is associated with APOE/TOMM40 variants and preclinical dementia". Neurology Genetics 6, n.º 5 (10 de setembro de 2020): e508. http://dx.doi.org/10.1212/nxg.0000000000000508.
Texto completo da fonteRitelli, Marco, Valeria Cinquina, Marina Venturini, Letizia Pezzaioli, Anna Formenti, Nicola Chiarelli e Marina Colombi. "Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome". Genes 10, n.º 2 (12 de fevereiro de 2019): 135. http://dx.doi.org/10.3390/genes10020135.
Texto completo da fonteSivapalaratnam, Suthesh, Hayman Melissa, Claire Lentaigne, Melissa Chan, Marilena Crescente, Harriet Allan, Katherine Wedderburn et al. "Congenital Aspirin-like Defect As a Result of Autosomal Recessive Variants in PTGS1". Blood 132, Supplement 1 (29 de novembro de 2018): 1156. http://dx.doi.org/10.1182/blood-2018-99-118958.
Texto completo da fonteAbdulla, Farah, Heather Peck, Ashley Feneran, Ashley Jenkins e Katherine Mullersman. "Distinguishing a Rare Variant of Lipidized Dermatofibroma from Nonlipidized Dermatofibromas in a Patient with Hypothyroidism and Alopecia Areata". Serbian Journal of Dermatology and Venereology 9, n.º 2 (27 de junho de 2017): 53–56. http://dx.doi.org/10.1515/sjdv-2017-0008.
Texto completo da fonteSavige, Judy, Helen Storey, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, Alessandra Renieri, Francesca Mari et al. "Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria". European Journal of Human Genetics 29, n.º 8 (15 de abril de 2021): 1186–97. http://dx.doi.org/10.1038/s41431-021-00858-1.
Texto completo da fonteBarbeau, Susie, Fannie Semprez, Alexandre Dobbertin, Laurine Merriadec, Florine Roussange, Bruno Eymard, Damien Sternberg et al. "Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ". International Journal of Molecular Sciences 24, n.º 22 (11 de novembro de 2023): 16217. http://dx.doi.org/10.3390/ijms242216217.
Texto completo da fonteChiarelli, Ritelli, Zoppi e Colombi. "Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes". Genes 10, n.º 8 (12 de agosto de 2019): 609. http://dx.doi.org/10.3390/genes10080609.
Texto completo da fonteHoyer, M., N. Drechsel, M. Meyer, C. Meier, C. Hinüber, A. Breier, J. Hahner et al. "Embroidered polymer–collagen hybrid scaffold variants for ligament tissue engineering". Materials Science and Engineering: C 43 (outubro de 2014): 290–99. http://dx.doi.org/10.1016/j.msec.2014.07.010.
Texto completo da fonteVillar-Quiles, Rocío N., Sandra Donkervoort, Alix de Becdelièvre, Corine Gartioux, Valérie Jobic, A. Reghan Foley, Riley M. McCarty et al. "Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies". Journal of Neuromuscular Diseases 8, n.º 4 (30 de julho de 2021): 633–45. http://dx.doi.org/10.3233/jnd-200577.
Texto completo da fonteAksenova, M. E., P. E. Povilaitite, N. E. Konkova e V. V. Dlin. "Diagnostic Value of Type IV Collagen Expression in Renal Glomeruli at Alport’s Syndrome". Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 65, n.º 6 (22 de janeiro de 2021): 42–49. http://dx.doi.org/10.21508/1027-4065-2020-65-6-42-49.
Texto completo da fonteNowak, Agata A., Kevin Canis, Anne Riddell, Michael A. Laffan e Thomas A. J. McKinnon. "O-linked glycosylation of von Willebrand factor modulates the interaction with platelet receptor glycoprotein Ib under static and shear stress conditions". Blood 120, n.º 1 (5 de julho de 2012): 214–22. http://dx.doi.org/10.1182/blood-2012-02-410050.
Texto completo da fonteAngwin, Chloe, Angela F. Brady, Marina Colombi, David J. P. Ferguson, Rebecca Pollitt, F. Michael Pope, Marco Ritelli, Sofie Symoens, Neeti Ghali e Fleur S. van Dijk. "Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients". Genes 10, n.º 10 (27 de setembro de 2019): 762. http://dx.doi.org/10.3390/genes10100762.
Texto completo da fonteDeltas, Constantinos, Gregory Papagregoriou, Stavroula F. Louka, Apostolos Malatras, Frances Flinter, Daniel P. Gale, Susie Gear et al. "Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice". Genes 14, n.º 9 (25 de agosto de 2023): 1686. http://dx.doi.org/10.3390/genes14091686.
Texto completo da fonteTešanović Perković, Deša, Zrinka Bukvić Mokos e Branka Marinović. "Epidermolysis Bullosa Acquisita—Current and Emerging Treatments". Journal of Clinical Medicine 12, n.º 3 (1 de fevereiro de 2023): 1139. http://dx.doi.org/10.3390/jcm12031139.
Texto completo da fonteMiyamoto-Mikami, Eri, Hiroshi Kumagai, Naoki Kikuchi, Nobuhiro Kamiya, Naokazu Miyamoto e Noriyuki Fuku. "eQTL variants in COL22A1 are associated with muscle injury in athletes". Physiological Genomics 52, n.º 12 (1 de dezembro de 2020): 588–89. http://dx.doi.org/10.1152/physiolgenomics.00115.2020.
Texto completo da fonteKantaputra, Piranit Nik, Salita Angkurawaranon, Worrachet Intachai, Chumpol Ngamphiw, Bjorn Olsen, Sissades Tongsima, Timothy C. Cox e James R. Ketudat Cairns. "A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII". Genes 14, n.º 2 (26 de janeiro de 2023): 322. http://dx.doi.org/10.3390/genes14020322.
Texto completo da fonteZhytnik, Lidiia, Katre Maasalu, Binh Ho Duy, Andrey Pashenko, Sergey Khmyzov, Ene Reimann, Ele Prans, Sulev Kõks e Aare Märtson. "De novo and inherited pathogenic variants in collagen‐related osteogenesis imperfecta". Molecular Genetics & Genomic Medicine 7, n.º 3 (24 de janeiro de 2019): e559. http://dx.doi.org/10.1002/mgg3.559.
Texto completo da fonteChoi, Soon-Il, Se-Joon Woo, Baek-Lok Oh, Jinu Han, Hyun-Taek Lim, Byung-Joo Lee, Kwangsic Joo et al. "Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1". Genes 12, n.º 10 (5 de outubro de 2021): 1578. http://dx.doi.org/10.3390/genes12101578.
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