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https://www.readbyqxmd.com/read/28378289/molecular-diagnosis-in-children-with-fractures-but-no-extraskeletal-signs-of-osteogenesis-imperfecta
#1
G Bardai, L M Ward, P Trejo, P Moffatt, F H Glorieux, F Rauch
In 26 of 94 individuals (28%) below 21 years of age who had a significant fracture history but did not have extraskeletal features of osteogenesis imperfecta (OI), we detected disease-causing mutations in OI-associated genes. INTRODUCTION: In children who have mild bone fragility but do not have extraskeletal features of OI, it can be difficult to establish a diagnosis on clinical grounds. Here, we assessed the diagnostic yield of genetic testing in this context, by sequencing a panel of genes that are associated with OI...
April 4, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28300755/vitamin-d-impacts-the-expression-of-runx2-target-genes-and-modulates-inflammation-oxidative-stress-and-membrane-vesicle-biogenesis-gene-networks-in-143b-osteosarcoma-cells
#2
Rama Garimella, Priyanka Tadikonda, Ossama Tawfik, Sumedha Gunewardena, Peter Rowe, Peter Van Veldhuizen
Osteosarcoma (OS) is an aggressive malignancy of bone affecting children, adolescents and young adults. Understanding vitamin D metabolism and vitamin D regulated genes in OS is an important aspect of vitamin D/cancer paradigm, and in evaluating vitamin D as adjuvant therapy for human OS. Vitamin D treatment of 143B OS cells induced significant and novel changes in the expression of genes that regulate: (a) inflammation and immunity; (b) formation of reactive oxygen species, metabolism of cyclic nucleotides, sterols, vitamins and mineral (calcium), quantity of gap junctions and skeletogenesis; (c) bone mineral density; and (d) cell viability of skeletal cells, aggregation of bone cancer cells and exocytosis of secretory vesicles...
March 16, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28257626/two-novel-compound-heterozygous-bmp1-mutations-in-a-patient-with-osteogenesis-imperfecta-a-case-report
#3
Apiruk Sangsin, Chulaluck Kuptanon, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn, Vorasuk Shotelersuk
BACKGROUND: Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia leading to a susceptibility to fractures. OI can be caused by mutations in several genes including BMP1. It encodes two isoforms, bone morphogenetic protein 1 (BMP1) and mammalian tolloid (mTLD); both have proteolytic activity to remove the C-propeptide from procollagen. CASE PRESENTATION: We report a Thai OI patient who had his first fracture at the age of three months. Using next generation sequencing, we successfully identified two novel compound heterozygous BMP1 mutations...
March 4, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28221363/premature-primary-tooth-eruption-in-cognitive-motor-delayed-adnp-mutated-children
#4
I Gozes, A Van Dijck, G Hacohen-Kleiman, I Grigg, G Karmon, E Giladi, M Eger, Y Gabet, M Pasmanik-Chor, E Cappuyns, O Elpeleg, R F Kooy, S Bedrosian-Sermone
A major flaw in autism spectrum disorder (ASD) management is late diagnosis. Activity-dependent neuroprotective protein (ADNP) is a most frequent de novo mutated ASD-related gene. Functionally, ADNP protects nerve cells against electrical blockade. In mice, complete Adnp deficiency results in dysregulation of over 400 genes and failure to form a brain. Adnp haploinsufficiency results in cognitive and social deficiencies coupled to sex- and age-dependent deficits in the key microtubule and ion channel pathways...
February 21, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28068493/bmp1-and-tll1-are-required-for-maintaining-periodontal-homeostasis
#5
J Wang, D Massoudi, Y Ren, A M Muir, S E Harris, D S Greenspan, J Q Feng
Mutations in bone morphogenetic protein 1 (BMP1) in humans or deletion of BMP1 and related protease tolloid like 1 (TLL1) in mice lead to osteogenesis imperfecta (OI). Here, we show progressive periodontal defects in mice in which both BMP1 and TLL1 have been conditionally ablated, including malformed periodontal ligament (PDL) (recently shown to play key roles in normal alveolar bone formation), significant loss in alveolar bone mass ( P < 0.01), and a sharp reduction in cellular cementum. Molecular mechanism studies revealed a dramatic increase in the uncleaved precursor of type I collagen (procollagen I) and a reduction in dentin matrix protein 1 (DMP1), which is partially responsible for defects in extracellular matrix (ECM) formation and mineralization...
May 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28000152/inactivation-of-bone-morphogenetic-protein-1-bmp1-and-tolloid-like-1-tll1-in-cells-expressing-type-i-collagen-leads-to-dental-and-periodontal-defects-in-mice
#6
Hua Zhang, Priyam Jani, Tian Liang, Yongbo Lu, Chunlin Qin
Bone morphogenetic protein 1 (BMP1) and tolloid-like 1 (TLL1) belong to the BMP1/tolloid-like proteinase family, which cleaves secretory proteins. The constitutive deletion of the Bmp1 or Tll1 genes causes perinatal or embryonic lethality in mice. In this study, we first studied the β-galactosidase activity in mice in which an IRES-lacZ-Neo cassette was inserted in the intron of either the Bmp1 or the Tll1 gene; the β-galactosidase activities were used to reflect the expression of endogenous Bmp1 and Tll1, respectively...
April 2017: Journal of Molecular Histology
https://www.readbyqxmd.com/read/27943413/aberrant-connective-tissue-differentiation-towards-cartilage-and-bone-underlies-human-keloids-in-african-americans
#7
Judilyn Fuentes-Duculan, Kathleen M Bonifacio, Mayte Suárez-Fariñas, Norma Kunjravia, Sandra Garcet, Tristan Cruz, Claire Q F Wang, Hui Xu, Patricia Gilleadeau, Mary Sullivan-Whalen, Michael H Tirgan, James G Krueger
Keloids are benign fibroproliferative tumors more frequently found among African Americans. Until now, keloid etiopathogenesis is not fully understood. To characterize keloids in African Americans, we performed transcriptional profiling of biopsies from large chronic keloids, adjacent non-lesional (NL) skin (n=3) and a newly formed keloid lesion using Affymetrix HGU133 2.0 plus arrays. Quantitative RT-PCR (qRT-PCR) and immunohistochemistry (IHC) staining were performed to confirm increased expression of relevant genes...
December 11, 2016: Experimental Dermatology
https://www.readbyqxmd.com/read/27890905/bone-morphogenetic-protein-1-is-expressed-in-porcine-ovarian-follicles-and-promotes-oocyte-maturation-and-early-embryonic-development
#8
Xiaocan Lei, Kuiqing Cui, Xiaoyan Cai, Yanping Ren, Qingyou Liu, Deshun Shi
In the present study, we tried to determine whether bone morphogenetic protein 1 (BMP1) plays a role in ovarian follicular development and early embryo development. We systematically investigated the expression and influence of BMP1 during porcine follicle and early embryonic development. Immunohistochemistry demonstrated that the BMP1 protein is expressed in granular cells and oocytes during follicular development, from primary to pre-ovulatory follicles, including atretic follicles and the corpus luteum. The mRNA expression of BMP1 significantly increased as the porcine follicles grew...
February 4, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/27847137/essential-roles-of-bone-morphogenetic-protein-1-and-mammalian-tolloid-like-1-in-postnatal-root-dentin-formation
#9
Jun Wang, Alison M Muir, Yinshi Ren, Dawiyat Massoudi, Daniel S Greenspan, Jian Q Feng
INTRODUCTION: Mutations in the proteinase bone morphogenetic protein-1 (BMP1) were recently identified in patients with osteogenesis imperfecta, which can be associated with type 1 dentinogenesis imperfecta. BMP1 is co-expressed in various tissues and has overlapping activities with the closely related proteinase mammalian tolloid-like 1 (TLL1). In this study we investigated whether removing the overlapping activities of BMP1 and TLL1 affects the mineralization of tooth root dentin. METHODS: Floxed alleles of the BMP1 and TLL1 genes were excised via ubiquitously expressed Cre induced by tamoxifen treatment beginning at 3 days of age (harvested at 3 weeks of age) or beginning at 4 weeks of age (harvested at 8 weeks of age)...
January 2017: Journal of Endodontics
https://www.readbyqxmd.com/read/27803754/the-diagnostic-significance-of-signal-peptide-complement-c1r-c1s-uegf-and-bmp1-epidermal-growth-factor-domain-containing-protein-1-levels-in-pulmonary-embolism
#10
Nigar Dirican, Ali Duman, Gülcan Sağlam, Akif Arslan, Onder Ozturk, Sule Atalay, Ahmet Bircan, Ahmet Akkaya, Munire Cakir
BACKGROUND: Pulmonary embolism (PE) is a common and potentially life-threatening disorder. Patients with PE often have nonspecific symptoms, and the diagnosis is often delayed. AIM: The aim of our study was to investigate the role of signal peptide-complement C1r/C1s, Uegf, and Bmp1-epidermal growth factor domain-containing protein 1 (SCUBE1) used in the diagnosis of PE. METHODS: The study was designed prospectively. A total of 57 patients who were admitted to emergency service with clinically suspected PE were included in the study...
October 2016: Annals of Thoracic Medicine
https://www.readbyqxmd.com/read/27782377/influence-of-wfikkn1-on-bmp1-mediated-activation-of-latent-myostatin
#11
György Szláma, Viktor Vásárhelyi, Mária Trexler, László Patthy
The NTR domain of WFIKKN1 protein has been shown to have significant affinity for the prodomain regions of promyostatin and latent myostatin but the biological significance of these interactions remained unclear. In view of its role as a myostatin antagonist, we tested the assumption that WFIKKN1 inhibits the release of myostatin from promyostatin and/or latent myostatin. WFIKKN1 was found to have no effect on processing of promyostatin by furin, the rate of cleavage of latent myostatin by BMP1, however, was significantly enhanced in the presence of WFIKKN1 and this enhancer activity was superstimulated by heparin...
December 2016: FEBS Journal
https://www.readbyqxmd.com/read/27636223/transcriptional-regulation-of-connective-tissue-metabolism-genes-in-women-with-pelvic-organ-prolapse
#12
Ali Borazjani, Nathan Kow, Samantha Harris, Beri Ridgeway, Margot S Damaser
OBJECTIVE: The aim of this study was to compare differences in expressions and relationships between key genes involved in extracellular matrix metabolism and tissue cellularity in women with and without pelvic organ prolapse (POP). METHODS: A total of 80 biopsies (anterior cuff, posterior cuff, and/or leading edge) were obtained from 30 women: n = 10 premenopausal without POP (controls), n = 10 premenopausal with POP, and n = 10 postmenopausal with POP. Quantitative reverse-transcriptase polymerase chain reaction was used to assess gene expression of bone morphogenetic protein 1 (BMP1), collagen types I (COL1) and III (COL3), relaxin family peptide receptor 1 (RXFP1), matrix metallopeptidase 2, and TIMP metallopeptidase inhibitors 2 and 3...
January 2017: Female Pelvic Medicine & Reconstructive Surgery
https://www.readbyqxmd.com/read/27576954/phenotypic-variability-in-patients-with-osteogenesis-imperfecta-caused-by-bmp1-mutations
#13
Rebecca C Pollitt, Vrinda Saraff, Ann Dalton, Emma A Webb, Nick J Shaw, Glenda J Sobey, M Zulf Mughal, Emma Hobson, Farhan Ali, Nicholas J Bishop, Paul Arundel, Wolfgang Högler, Meena Balasubramanian
Osteogenesis Imperfecta (OI) is an inherited bone fragility disorder most commonly associated with autosomal dominant mutations in the type I collagen genes. Autosomal recessive mutations in a number of genes have also been described, including the BMP1 gene that encodes the mammalian Tolloid (mTLD) and its shorter isoform bone morphogenic protein-1 (BMP1). To date, less than 20 individuals with OI have been identified with BMP1 mutations, with skeletal phenotypes ranging from mild to severe and progressively deforming...
December 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27386823/integrative-functional-genomics-identifies-regulatory-mechanisms-at-coronary-artery-disease-loci
#14
Clint L Miller, Milos Pjanic, Ting Wang, Trieu Nguyen, Ariella Cohain, Jonathan D Lee, Ljubica Perisic, Ulf Hedin, Ramendra K Kundu, Deshna Majmudar, Juyong B Kim, Oliver Wang, Christer Betsholtz, Arno Ruusalepp, Oscar Franzén, Themistocles L Assimes, Stephen B Montgomery, Eric E Schadt, Johan L M Björkegren, Thomas Quertermous
Coronary artery disease (CAD) is the leading cause of mortality and morbidity, driven by both genetic and environmental risk factors. Meta-analyses of genome-wide association studies have identified >150 loci associated with CAD and myocardial infarction susceptibility in humans. A majority of these variants reside in non-coding regions and are co-inherited with hundreds of candidate regulatory variants, presenting a challenge to elucidate their functions. Herein, we use integrative genomic, epigenomic and transcriptomic profiling of perturbed human coronary artery smooth muscle cells and tissues to begin to identify causal regulatory variation and mechanisms responsible for CAD associations...
July 8, 2016: Nature Communications
https://www.readbyqxmd.com/read/27366208/matrix-and-cell-phenotype-differences-in-dupuytren-s-disease
#15
Marike M van Beuge, Evert-Jan P M Ten Dam, Paul M N Werker, Ruud A Bank
BACKGROUND: Dupuytren's disease is a fibroproliferative disease of the hand and fingers, which usually manifests as two different phenotypes within the same patient. The disease first causes a nodule in the palm of the hand, while later, a cord develops, causing contracture of the fingers. RESULTS: We set out to characterize the two phenotypes by comparing matched cord and nodule tissue from ten Dupuytren's patients. We found that nodule tissue contained more proliferating cells, CD68-positive macrophages and α-smooth muscle actin (α-SMA)-positive myofibroblastic cells...
2016: Fibrogenesis & Tissue Repair
https://www.readbyqxmd.com/read/27363389/bmp1-like-proteinases-are-essential-to-the-structure-and-wound-healing-of-skin
#16
Alison M Muir, Dawiyat Massoudi, Ngon Nguyen, Douglas R Keene, Se-Jin Lee, David E Birk, Jeffrey M Davidson, M Peter Marinkovich, Daniel S Greenspan
Closely related extracellular metalloproteinases bone morphogenetic protein 1 (BMP1) and mammalian Tolloid-like 1 (mTLL1) are co-expressed in various tissues and have been suggested to have overlapping roles in the biosynthetic processing of extracellular matrix components. Early lethality of mice null for the BMP1 gene Bmp1 or the mTLL1 gene Tll1 has impaired in vivo studies of these proteinases. To overcome issues of early lethality and functional redundancy we developed the novel BT(KO) mouse strain, with floxed Bmp1 and Tll1 alleles, for induction of postnatal, simultaneous ablation of the two genes...
December 2016: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/26956419/contribution-of-the-anaphylatoxin-receptors-c3ar-and-c5ar-to-the-pathogenesis-of-pulmonary-fibrosis
#17
Hongmei Gu, Amanda J Fisher, Elizabeth A Mickler, Frank Duerson, Oscar W Cummings, Marc Peters-Golden, Homer L Twigg, Trent M Woodruff, David S Wilkes, Ragini Vittal
Complement activation, an integral arm of innate immunity, may be the critical link to the pathogenesis of idiopathic pulmonary fibrosis (IPF). Whereas we have previously reported elevated anaphylatoxins-complement component 3a (C3a) and complement component 5a (C5a)-in IPF, which interact with TGF-β and augment epithelial injury in vitro, their role in IPF pathogenesis remains unclear. The objective of the current study is to determine the mechanistic role of the binding of C3a/C5a to their respective receptors (C3aR and C5aR) in the progression of lung fibrosis...
June 2016: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/26876198/cdcp1-cleavage-is-necessary-for-homodimerization-induced-migration-of-triple-negative-breast-cancer
#18
H J Wright, J Arulmoli, M Motazedi, L J Nelson, F S Heinemann, L A Flanagan, O V Razorenova
Triple-negative breast cancer (TNBC) is a highly aggressive and metastatic form of breast cancer that lacks the estrogen, progesterone and HER2 receptors and is resistant to targeted and hormone therapies. TNBCs express high levels of the transmembrane glycoprotein, complement C1r/C1s, Uegf, Bmp1 (CUB)-domain containing protein 1 (CDCP1), which has been correlated with the aggressiveness and poor prognosis of multiple carcinomas. Full-length CDCP1 (flCDCP1) can be proteolytically cleaved, resulting in a cleaved membrane-bound isoform (cCDCP1)...
September 8, 2016: Oncogene
https://www.readbyqxmd.com/read/26820911/phenethyl-isothiocyanate-peitc-suppresses-prostate-cancer-cell-invasion-epigenetically-through-regulating-microrna-194
#19
Chengyue Zhang, Limin Shu, Hyuck Kim, Tin Oo Khor, Renyi Wu, Wenji Li, Ah-Ng Tony Kong
SCOPE: Tumor metastasis greatly contributes to the mortality of prostate cancer. The glucosinolate-derived phenethyl isothiocyanate (PEITC) has been widely documented to reduce the risk of prostate cancer by modulating multiple biologically relevant processes. Emerging evidence suggests that PEITC may exert its anti-cancer effects through epigenetic mechanisms including microRNAs. Altered levels of miRNA have been linked to tumor malignancy due to their capacity to regulate functional gene expression in carcinogenesis...
June 2016: Molecular Nutrition & Food Research
https://www.readbyqxmd.com/read/26778140/bmp-1-participates-in-the-selection-and-dominance-of-buffalo-follicles-by-regulating-the-proliferation-and-apoptosis-of-granulosa-cells
#20
Xiaocan Lei, Kuiqing Cui, Zhipeng Li, Jie Su, Jianrong Jiang, Haihang Zhang, Qingyou Liu, Deshun Shi
BMP1/TLD-related metalloproteinases play a key role in morphogenesis via the proteolytic maturation of a number of extracellular matrix proteins and the activation of a subset of growth factors of the transforming growth factor beta superfamily. Recent data indicated that BMP1 is expressed in sheep ovarian follicles and showed a protease activity. The aim of the present study was to characterize the function of the buffalo BMP1 gene in folliculogenesis. A 3195-bp buffalo BMP1 mRNA fragment was firstly cloned and sequenced, which contained a whole 2967-bp codon sequence...
March 15, 2016: Theriogenology
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