keyword
MENU ▼
Read by QxMD icon Read
search

COL1A2

keyword
https://www.readbyqxmd.com/read/29764212/the-clinical-application-of-single-sperm-based-snp-haplotyping-for-pgd-of-osteogenesis-imperfecta
#1
Linjun Chen, Zhenyu Diao, Zhipeng Xu, Jianjun Zhou, Guijun Yan, Haixiang Sun
Osteogenesis imperfecta (OI) is a genetically heterogeneous disorder, presenting either autosomal dominant, autosomal recessive or X-linked inheritance patterns. The majority of OI cases are autosomal dominant and are caused by heterozygous mutations in either the COL1A1 or COL1A2 gene. In these dominant disorders, allele dropout (ADO) can lead to misdiagnosis in preimplantation genetic diagnosis (PGD). Polymorphic markers linked to the mutated genes have been used to establish haplotypes for identifying ADO and ensuring the accuracy of PGD...
May 15, 2018: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/29707433/a-robust-method-for-rna-extraction-and-purification-from-a-single-adult-mouse-tendon
#2
Mor Grinstein, Heather L Dingwall, Rishita R Shah, Terence D Capellini, Jenna L Galloway
Background: Mechanistic understanding of tendon molecular and cellular biology is crucial toward furthering our abilities to design new therapies for tendon and ligament injuries and disease. Recent transcriptomic and epigenomic studies in the field have harnessed the power of mouse genetics to reveal new insights into tendon biology. However, many mouse studies pool tendon tissues or use amplification methods to perform RNA analysis, which can significantly increase the experimental costs and limit the ability to detect changes in expression of low copy transcripts...
2018: PeerJ
https://www.readbyqxmd.com/read/29669177/mutations-that-alter-the-carboxy-terminal-propeptide-cleavage-site-of-the-chains-of-type-i-procollagen-are-associated-with-a-unique-osteogenesis-imperfecta-phenotype
#3
Tim Cundy, Michael Dray, John Delahunt, Jannie Dahl Hald, Bente Langdahl, Chumei Li, Marta Szybowska, Shehla Mohammed, Emma L Duncan, Aideen M McInerney-Leo, Patricia G Wheeler, Paul Roschger, Klaus Klaushofer, Jyoti Rai, MaryAnn Weis, David Eyre, Ulrike Schwarze, Peter H Byers
Osteogenesis imperfecta (OI) is a genetic bone disorder characterized by fractures, low bone mass, and skeletal fragility. It most commonly arises from dominantly inherited mutations in the genes COL1A1 and COL1A2 that encode the chains of type I collagen. A number of recent reports have suggested that mutations affecting the carboxyl-terminal propeptide cleavage site in the products of either COL1A1 or COL1A2 give rise to a form of OI characterized by unusually dense bones. We have assembled clinical, biochemical, and molecular data from 29 individuals from 8 families with 7 different mutations affecting the C-propeptide cleavage site...
April 18, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29662759/investigation-of-bioeffects-of-g-protein-coupled-receptor-1-on-bone-turnover-in-male-mice
#4
Jian Li, Liang Xiang, Xiaotong Jiang, Bin Teng, Yutao Sun, Guanlian Chen, Jie Chen, Jian V Zhang, Pei-Gen Ren
Maintenance of healthy bone quality and quantity requires a well-coordinated balance between bone formation by osteoblasts and bone resorption by osteoclasts. Chemerin is a novel adipokine with known functions such as regulating immunity and energy homeostasis through activation of chemokine-like receptor 1 (CMKLR1). G protein-coupled receptor 1 (GPR1) is the second mammalian chemerin receptor with similar binding affinity as CMKLR1. In male GPR1-/- mice, a phenotype with significantly low bone mineral density was observed...
July 2017: Journal of Orthopaedic Translation
https://www.readbyqxmd.com/read/29614203/changes-in-the-expression-of-matrix-extracellular-genes-and-tgfb-family-members-in-rotator-cuff-tears
#5
Paulo Santoro Belangero, Eduardo Antônio Figueiredo, Carina Cohen, Felipe de Seixas Alves, Wânia Hiromi Yanaguizawa, Marília Cardoso Smith, Carlos Vicente Andreoli, Alberto de Castro Pochini, Maria Teresa de Seixas Alves, Benno Ejnisman, Moises Cohen, Mariana Ferreira Leal
Lack of synthesis of extracellular matrix compounds may contribute to degeneration of the tendons. Thus, we aimed to evaluate the expression of extracellular matrix and TGFB family members in ruptured and non-ruptured tendons of the rotator cuff, as well as the effect of clinical factors on gene expression in tendon samples, and the relationship between histological findings and altered gene expression. Injured and non-injured supraspinatus tendon samples and subscapular non-injured tendon samples were collected from 38 patients with rotator cuff tears...
April 3, 2018: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/29610343/transient-fibrosis-resolves-via-fibroblast-inactivation-in-the-regenerating-zebrafish-heart
#6
Héctor Sánchez-Iranzo, María Galardi-Castilla, Andrés Sanz-Morejón, Juan Manuel González-Rosa, Ricardo Costa, Alexander Ernst, Julio Sainz de Aja, Xavier Langa, Nadia Mercader
In the zebrafish ( Danio rerio ), regeneration and fibrosis after cardiac injury are not mutually exclusive responses. Upon cardiac cryoinjury, collagen and other extracellular matrix (ECM) proteins accumulate at the injury site. However, in contrast to the situation in mammals, fibrosis is transient in zebrafish and its regression is concomitant with regrowth of the myocardial wall. Little is known about the cells producing this fibrotic tissue or how it resolves. Using novel genetic tools to mark periostin b - and collagen 1alpha2 ( col1a2 )-expressing cells in combination with transcriptome analysis, we explored the sources of activated fibroblasts and traced their fate...
April 2, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29594386/mutational-analysis-uncovers-monogenic-bone-disorders-in-women-with-pregnancy-associated-osteoporosis-three-novel-mutations-in-lrp5-col1a1-and-col1a2
#7
S Butscheidt, A Delsmann, T Rolvien, F Barvencik, M Al-Bughaili, S Mundlos, T Schinke, M Amling, U Kornak, R Oheim
Pregnancy was found to be a skeletal risk factor promoting the initial onset of previously unrecognized monogenic bone disorders, thus explaining a proportion of cases with pregnancy-associated osteoporosis. Therapeutic measures should focus in particular on the normalization of the disturbed calcium homeostasis in order to enable the partial skeletal recovery. INTRODUCTION: Pregnancy-associated osteoporosis (PAO) is a rare skeletal condition, which is characterized by a reduction in bone mineral density (BMD) in the course of pregnancy and lactation...
March 29, 2018: Osteoporosis International
https://www.readbyqxmd.com/read/29588876/ectopic-telomerase-expression-fails-to-maintain-chondrogenic-capacity-in-three-dimensional-cultures-of-clinically-relevant-cell-types
#8
Tina P Dale, Nicholas R Forsyth
The poor healing capacity of cartilage and lack of effective treatment for associated disease and trauma makes it a strong candidate for a regenerative medicine approach. Potential therapies tested to date, although effective, have met with a number of intrinsic difficulties possibly related to limited autologous chondrocyte cell yield and quality of cartilage produced. A potential mechanism to bypass limited cell yields and improve quality of differentiation is to immortalize relevant cell types through the ectopic expression of telomerase...
2018: BioResearch Open Access
https://www.readbyqxmd.com/read/29575674/dentin-dysplasia-type-i-a-dental-disease-with-genetic-heterogeneity
#9
REVIEW
Dong Chen, Xiaocong Li, Fangli Lu, Yingying Wang, Fu Xiong, Qiang Li
Hereditary dentin disorders include dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), which are autosomal dominant diseases characterized by altered dentin structure such as abnormality in dentin mineralization and the absence of root dentin. Shields classified DGI into three subgroups and DD into two subtypes. Although they are all hereditary dentin diseases, they do not share the same causative genes. To date, the pathogenic genes of DGI type I, which is considered a clinical manifestation of syndrome osteogenesis imperfecta, include COL1A1 and COL1A2...
March 25, 2018: Oral Diseases
https://www.readbyqxmd.com/read/29572562/autosomal-recessive-osteogenesis-imperfecta-caused-by-a-novel-homozygous-col1a2-mutation
#10
Alice Costantini, Symeon Tournis, Anders Kämpe, Noor Ul Ain, Fulya Taylan, Artemis Doulgeraki, Outi Mäkitie
Osteogenesis imperfecta (OI) is a skeletal dysplasia characterized by brittle bones and extraskeletal manifestations. The disease phenotype varies greatly. Most commonly, OI arises from monoallelic mutations in one of the two genes encoding type I collagen, COL1A1 and COL1A2 and is inherited as an autosomal dominant trait. Here, we describe a consanguineous family with autosomal recessive OI caused by a novel homozygous glycine substitution in COL1A2, NM_000089.3: c.604G>A, p.(Gly202Ser), detected by whole-genome sequencing...
March 23, 2018: Calcified Tissue International
https://www.readbyqxmd.com/read/29565632/higher-gene-expression-of-healing-factors-in-anterior-cruciate-ligament-remnant-in-acute-anterior-cruciate-ligament-tear
#11
João Victor Novaretti, Diego Costa Astur, Davi Casadio, Alexandre Pedro Nicolini, Alberto de Castro Pochini, Carlos Vicente Andreoli, Benno Ejnisman, Moises Cohen
BACKGROUND: Anterior cruciate ligament (ACL) reconstruction with remnant preservation has been described and related to potential advantages. Literature is lacking regarding gene expression of potential factors related to ligament healing in the ACL remnant and its relation to time from injury. HYPOTHESIS: The mRNA expression of ligament healing factors in the ACL remnant would be higher in acute tears (<3 months from injury) than in intermediate (3-12 months) and chronic (>12 months) injuries...
March 1, 2018: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/29543922/mutations-in-the-col1a1-and-col1a2-genes-associated-with-osteogenesis-imperfecta-oi-types-i-or-iii
#12
Aleksandra Augusciak-Duma, Joanna Witecka, Aleksander L Sieron, Magdalena Janeczko, Jacek J Pietrzyk, Karolina Ochman, Anna Galicka, Maria K Borszewska-Kornacka, Jacek Pilch, Elzbieta Jakubowska-Pietkiewicz
Although over 85% of osteogenesis imperfecta (OI) cases are associated with mutations in the procollagen type I genes (COL1A1 or COL1A2), no hot spots for the mutations were associated with particular clinical phenotypes. Eight patients that were studied here, diagnosed with OI by clinical standards, are from the Polish population with no ethnic background indicated. Previously unpublished mutations were found in six out of those eight patients. Genotypes for polymorphisms (Sp1 - rs1800012 and PvuII - rs412777), linked to bone formation and metabolism were determined...
March 15, 2018: Acta Biochimica Polonica
https://www.readbyqxmd.com/read/29499418/diagnostic-strategies-and-genotype-phenotype-correlation-in-a-large-indian-cohort-of-osteogenesis-imperfecta
#13
Julia Mrosk, Gandham SriLakshmi Bhavani, Hitesh Shah, Jochen Hecht, Ulrike Krüger, Anju Shukla, Uwe Kornak, Katta Mohan Girisha
Osteogenesis Imperfecta (OI) is a clinically and genetically heterogeneous disorder. Although differential diagnosis is greatly facilitated by next generation sequencing, its availability can vary considerably. In this study, we compared targeted gene panel or exome sequencing with clinical scoring and grouping in a cohort of 50 OI index patients recruited by a single Indian clinical center in an unselected fashion. In 48 patients we observed a total of 24 novel mutations and 24 known OI mutations, of which several were recurrent...
May 2018: Bone
https://www.readbyqxmd.com/read/29481978/novel-mutation-in-a-family-with-wnt1-related-osteoporosis
#14
Inusha Panigrahi, Siyaram Didel, Harita Kirpal, Ravishankara Bellampalli, Shabna Miyanath, Nandita Mullapudi, Sudha Rao
Osteogenesis imperfecta (OI) is an inherited disorder with osteoporosis and recurrent fractures. Children presenting with recurrent fractures and bowing of limbs have severe form of the disorder. Patients carrying homozygous WNT1 mutations have more frequent fractures while heterozygous carriers of the mutation in WNT1 gene are also found to have early onset osteoporosis. We identified a family with novel WNT1 mutation. The index case, a 6 month old child presented with fractures from early infancy. Next generation sequencing (NGS)done for the child didn't show any variations in other OI genes including COL1A1, COL1A2, SERPINH1, CRTAP, LEPRE1, PP1B, 1F1TM5 and BMP1 genes...
February 23, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29416678/mir-27a-as-a-predictor-for-the-activation-of-hepatic-stellate-cells-and-hepatitis-b-virus-induced-liver-cirrhosis
#15
Hui Zhang, Xiu-Li Yan, Xin-Xin Guo, Miao-Juan Shi, Yi-Yu Lu, Qian-Mei Zhou, Qi-Long Chen, Yi-Yang Hu, Lie-Ming Xu, Shuang Huang, Shi-Bing Su
Circulating microRNAs (miRNAs) can be employed as biomarkers to diagnose liver and other diseases. Noninvasive approaches are needed to complement and improve the current strategies for screening for biomarkers liver cirrhosis. We determined whether the serum levels of miRNAs can distinguish between chronic hepatitis B (CHB) and CHB-induced cirrhosis (HBC) and investigated the potential mechanisms involved. We found that serum miR-27a was significantly up-regulated in HBC, distinguishing HBC from CHB and healthy controls (Ctrl) ( P <0...
January 2, 2018: Oncotarget
https://www.readbyqxmd.com/read/29414824/overexpression-of-lncrna-ac067945-2-down-regulates-collagen-expression-in-skin-fibroblasts-and-possibly-correlates-with-the-vegf-and-wnt-signalling-pathways
#16
Ling Chen, Jingyun Li, Qian Li, Xue Li, Yanli Gao, Xiangdong Hua, Bei Zhou, Jun Li
BACKGROUND/AIMS: Long non-coding RNAs (lncRNAs) are thought to play crucial roles in human diseases. However, the function of lncRNAs in hypertrophic scar formation remains poorly understood. METHODS: Utilizing qRT-PCR, we explored the expression changes of AC067945.2. Overexpression of AC067945.2 in normal skin fibroblasts was performed by transient plasmid transfection. Western blot was used to check the proteins' expression changes. Cell Counting Kit-8 (CCK-8) assay and Annexin V/7-AAD staining were used to examine cell proliferation and apoptosis, respectively...
2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29389887/improvement-of-the-chondrocyte-specific-phenotype-upon-equine-bone-marrow-mesenchymal-stem-cell-differentiation-influence-of-culture-time-transforming-growth-factors-and-type-i-collagen-sirnas-on-the-differentiation-index
#17
Thomas Branly, Romain Contentin, Mélanie Desancé, Thibaud Jacquel, Lélia Bertoni, Sandrine Jacquet, Frédéric Mallein-Gerin, Jean-Marie Denoix, Fabrice Audigié, Magali Demoor, Philippe Galéra
Articular cartilage is a tissue characterized by its poor intrinsic capacity for self-repair. This tissue is frequently altered upon trauma or in osteoarthritis (OA), a degenerative disease that is currently incurable. Similar musculoskeletal disorders also affect horses and OA incurs considerable economic loss for the equine sector. In the view to develop new therapies for humans and horses, significant progress in tissue engineering has led to the emergence of new generations of cartilage therapy. Matrix-associated autologous chondrocyte implantation is an advanced 3D cell-based therapy that holds promise for cartilage repair...
February 1, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29388328/genotype-and-malocclusion-in-patients-with-osteogenesis-imperfecta
#18
Z Jabbour, A Al-Khateeb, H Eimar, J M Retrouvey, J Rizkallah, F H Glorieux, F Rauch, F Tamimi
OBJECTS: To investigate the relationship between genotype and severity of malocclusion in osteogenesis imperfecta (OI). SETTING AND SAMPLE POPULATION: A total of 49 patients participated in this cross-sectional study (age range: 5-19 years; 28 females; diagnoses: OI type I, N = 7; OI type III, N = 11; OI type IV, N = 27; OI type V, N = 2; OI type VI, N = 2). MATERIALS AND METHODS: Sequence analysis of COL1A1/COL1A2 and other OI-related genes was compared to the Peer Assessment Rating (PAR), an index reflecting the severity of malocclusion...
May 2018: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/29382611/novel-variant-in-sp7-osx-associated-with-recessive-osteogenesis-imperfecta-with-bone-fragility-and-hearing-impairment
#19
Melissa Fiscaletti, Andrew Biggin, Bruce Bennetts, Karen Wong, Julie Briody, Verity Pacey, Catherine Birman, Craig F Munns
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by low bone density and recurrent fractures with a wide genotypic and phenotypic spectrum. Common features include short stature, opalescent teeth, blue sclerae and hearing impairment. The majority (>90%) of patients with OI have autosomal dominant variants in COL1A1/COL1A2, which lead to defects in type 1 collagen. More recently, numerous recessive variants involving other genes have also been identified. Sp7/Osx gene, is a protein coding gene that encodes a zinc finger transcription factor, osterix, which is a member of the Sp subfamily of sequence-specific DNA-binding proteins...
May 2018: Bone
https://www.readbyqxmd.com/read/29361757/analysis-of-site-specific-methylation-of-tumor-related-genes-in-head-and-neck-cancer-potential-utility-as-biomarkers-for-prognosis
#20
Kiyoshi Misawa, Daiki Mochizuki, Atsushi Imai, Masato Mima, Yuki Misawa, Hiroyuki Mineta
Clarifying the epigenetic regulation of tumor-related genes (TRGs) can provide insights into the mechanisms of tumorigenesis and the risk for disease recurrence in HPV-negative head and neck cancers, originating in the hypopharynx, larynx, and oral cavity. We analyzed the methylation status of the promoters of 30 TRGs in 178 HPV-negative head and neck cancer patients using a quantitative methylation-specific PCR. Promoter methylation was correlated with various clinical characteristics and patient survival...
January 22, 2018: Cancers
keyword
keyword
24407
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"