| TGF-beta2 and collagen play pivotal roles in the spheroid formation and anti-aging of human dermal papilla cells. | TGF-β2 and collagen play pivotal roles in the spheroid formation and anti-aging of human dermal papilla cells.
Kim H, Choi N, Kim DY, Kim SY, Song SY, Sung JH., Free PMC Article | 01/22/2022 |
| Data suggest that ColXIII has a role in age-dependent cortical bone deterioration with possible implications for osteoporosis and fracture risk. | Collagen XIII-derived ectodomain regulates bone angiogenesis and intracortical remodeling.
Koivunen J, Kemppainen AV, Finnilä MA, Keski-Filppula R, Härönen H, Tu H, Pellikka H, Heikkinen A, Kylmäoja E, Sormunen R, Miinalainen I, Saarakkala S, Izzi V, Pihlajaniemi T. | 05/16/2020 |
| patients with COL13A1 mutations present mostly with severe early-onset myasthenic syndrome with feeding and breathing difficulties | The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Rodríguez Cruz PM, Cossins J, Estephan EP, Munell F, Selby K, Hirano M, Maroofin R, Mehrjardi MYV, Chow G, Carr A, Manzur A, Robb S, Munot P, Wei Liu W, Banka S, Fraser H, De Goede C, Zanoteli E, Conti Reed U, Sage A, Gratacos M, Macaya A, Dusl M, Senderek J, Töpf A, Hofer M, Knight R, Ramdas S, Jayawant S, Lochmüller H, Palace J, Beeson D., Free PMC Article | 03/14/2020 |
| The data of this study support the causality of COL13A1 variants for Congenital myasthenic syndrome. | Congenital myasthenic syndrome caused by novel COL13A1 mutations.
Dusl M, Moreno T, Munell F, Macaya A, Gratacòs M, Abicht A, Strom TM, Lochmüller H, Senderek J. | 08/17/2019 |
| Results indicate a function of collagen XIII in promoting cancer metastasis, cell invasion, and anoikis resistance. | Membrane associated collagen XIII promotes cancer metastasis and enhances anoikis resistance.
Zhang H, Fredericks T, Xiong G, Qi Y, Rychahou PG, Li JD, Pihlajaniemi T, Xu W, Xu R., Free PMC Article | 06/1/2019 |
| The authors report a congenital myasthenic syndrome due to mutations in COL13A1, which encodes an extracellular matrix protein that is concentrated at the neuromuscular junction and highlights a role for these extracellular matrix proteins in maintaining synaptic stability that is independent of the AGRN/MuSK clustering pathway. | Myasthenic syndromes due to defects in COL13A1 and in the N-linked glycosylation pathway.
Beeson D, Cossins J, Rodriguez Cruz PM, Maxwell S, Liu WW, Palace J. | 03/16/2019 |
| Findings suggest a significant association between variants in COL13A1, ADIPOQ, SAMM50, and PNPLA3, and risk of NAFLD/elevated transaminase levels in Mexican adults with an admixed ancestry. | Genetic variants in COL13A1, ADIPOQ and SAMM50, in addition to the PNPLA3 gene, confer susceptibility to elevated transaminase levels in an admixed Mexican population.
Larrieta-Carrasco E, Flores YN, Macías-Kauffer LR, Ramírez-Palacios P, Quiterio M, Ramírez-Salazar EG, León-Mimila P, Rivera-Paredez B, Cabrera-Álvarez G, Canizales-Quinteros S, Zhang ZF, López-Pérez TV, Salmerón J, Velázquez-Cruz R., Free PMC Article | 09/29/2018 |
| this study shows that COL13A1 production by urothelial carcinoma of the bladder plays a pivotal role in tumor invasion through the induction of tumor budding | Collagen type IV alpha 1 (COL4A1) and collagen type XIII alpha 1 (COL13A1) produced in cancer cells promote tumor budding at the invasion front in human urothelial carcinoma of the bladder.
Miyake M, Hori S, Morizawa Y, Tatsumi Y, Toritsuka M, Ohnishi S, Shimada K, Furuya H, Khadka VS, Deng Y, Ohnishi K, Iida K, Gotoh D, Nakai Y, Inoue T, Anai S, Torimoto K, Aoki K, Tanaka N, Konishi N, Fujimoto K., Free PMC Article | 03/31/2018 |
| It was established that the frequency of individuals with the COL13A1*D/*D genotype was higher in the senile age period. The LAMA2*I/*D genotype was predisposing to longevity among women. | [Alu insertion-deletion polymorphism of COL13A1 and LAMA2 genes: The analysis of association with longevity].
Karimov DD, Erdman VV, Nasibullin TR, Tuktarova IA, Somova RS, Timasheva YR, Mustafina OE. | 02/10/2018 |
| Urine levels of COL4A1, COL13A1, the combined values of COL4A1 and COL13A1 (COL4A1 + COL13A1), and CYFRA21-1 were significantly elevated in urine from patients with BCa compared to the controls. A high urinary COL4A1 + COL13A1 was found to be an independent risk factor for intravesical recurrence. | Diagnostic and prognostic role of urinary collagens in primary human bladder cancer.
Miyake M, Morizawa Y, Hori S, Tatsumi Y, Onishi S, Owari T, Iida K, Onishi K, Gotoh D, Nakai Y, Anai S, Chihara Y, Torimoto K, Aoki K, Tanaka N, Shimada K, Konishi N, Fujimoto K., Free PMC Article | 12/2/2017 |
| The combination of constitutively low expression of COL13A1, high physiological and metabolic demands, and consequentially relatively high exposure to stressors may explain the particular vulnerability of inferior rectus to thyroid-associated ophthalmopathy. | Constitutively low expression of collagen XIII alpha 1 may help explain the vulnerability of the inferior rectus muscle to thyroid-associated ophthalmopathy.
Morris OC, Schebitz Walter K, Telemo E, Hintschich C. | 02/4/2017 |
| We identified overexpression of collagen type XIII alpha 1 in active Thyroid-associated ophthalmopathy affected fat. | Overexpression of collagen XIII in extraocular fat affected by active thyroid-associated ophthalmopathy: A crucial piece of the puzzle?
Morris OC, Schebitz Walter K, Telemo E, Hintschich C. | 01/28/2017 |
| Congenital myasthenic syndrome type 19 is caused by mutations in COL13A1. | Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.
Logan CV, Cossins J, Rodríguez Cruz PM, Parry DA, Maxwell S, Martínez-Martínez P, Riepsaame J, Abdelhamed ZA, Lake AV, Moran M, Robb S, Chow G, Sewry C, Hopkins PM, Sheridan E, Jayawant S, Palace J, Johnson CA, Beeson D., Free PMC Article | 03/26/2016 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
Chalasani N, Guo X, Loomba R, Goodarzi MO, Haritunians T, Kwon S, Cui J, Taylor KD, Wilson L, Cummings OW, Chen YD, Rotter JI, Nonalcoholic Steatohepatitis Clinical Research Network., Free PMC Article | 09/15/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesAssociation of genetic variants with hemorrhagic stroke in Japanese individuals.
Yoshida T, Kato K, Yokoi K, Oguri M, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nozawa Y, Yamada Y. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.
Oguri M, Kato K, Yokoi K, Yoshida T, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nozawa Y, Yamada Y. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrièze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J, Goate A. | 12/2/2009 |
| two widely separated coiled-coil domains of type XIII and related collagens function as independent oligomerization domains participating in the folding of distinct areas of the molecule. | Type XIII collagen and some other transmembrane collagens contain two separate coiled-coil motifs, which may function as independent oligomerization domains.
Latvanlehto A, Snellman A, Tu H, Pihlajaniemi T. | 01/21/2010 |
| The type XIII collagen ectodomain is a 150-nm rod and capable of binding to fibronectin, nidogen-2, perlecan, and heparin. | The type XIII collagen ectodomain is a 150-nm rod and capable of binding to fibronectin, nidogen-2, perlecan, and heparin.
Tu H, Sasaki T, Snellman A, Göhring W, Pirilä P, Timpl R, Pihlajaniemi T. | 01/21/2010 |