keyword
https://read.qxmd.com/read/38536562/exome-sequencing-identified-mutations-in-the-wnt1-and-col1a2-genes-in-osteogenesis-imperfecta-cases
#1
JOURNAL ARTICLE
Poonam Mehta, Rahul Vishvkarma, Sushil Gupta, Naibedya Chattopadhyay, Singh Rajender
BACKGROUND: Osteogenesis imperfecta (OI) is a heritable connective tissue disorder characterized by bone deformities, fractures and reduced bone mass. OI can be inherited as a dominant, recessive, or X-linked disorder. The mutational spectrum has shown that autosomal dominant mutations in the type I collagen-encoding genes are responsible for OI in 85% of the cases. Apart from collagen genes, mutations in more than 20 other genes, such as CRTAP, CREB3L1, MBTPS2, P4HB, SEC24D, SPARC, FKBP10, LEPRE1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7, WNT1, BMP1, TMEM38B, and IFITM5 have been reported in OI...
March 27, 2024: Molecular Biology Reports
https://read.qxmd.com/read/38467865/comparative-genomic-studies-on-the-tgf-%C3%AE-superfamily-in-blue-whale
#2
JOURNAL ARTICLE
Zunaira Faiz, Shakeela Parveen, Saba Saeed, Muhammad Tayyab, Mehwish Sultana, Muhammad Hussain, Zainab Shafqat
TGF-β supergene family has a wide range of physiological functions including cell adhesion, motility, proliferation, apoptosis, and differentiation. We systematically analyzed and characterized the TGF-β gene superfamily from the whole blue whale (Balaenoptera musculus) genome, using comparative genomic and evolutionary analysis. We identified 30 TGF-β genes and were split into two subgroups, BMP-like and TGF-like. All TGF-β proteins demonstrating a basic nature, with the exception of BMP1, BMP2, BMP10, GDF2, MSTN, and NODAL modulator, had acidic characteristics...
March 11, 2024: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://read.qxmd.com/read/38463598/bone-morphogenetic-protein-1-a-prognostic-indicator-and-potential-biomarker-in-three-cancer-types
#3
JOURNAL ARTICLE
Ming Wang, Chunmei Liu, Yingjie Wang, Muhammad Jamil, Majid Alhomrani, Abdulhakeem S Alamri, Walaa F Alsanie, Abdulaziz Alsharif, Mubarik Ali, Norina Jabeen
BACKGROUND: Bone morphogenetic protein 1 (BMP1) is a metalloprotease that plays a role in activating both transforming growth factor-β (TGF-β) and BMP signaling pathways. TGF-β has been identified as a factor initiating and facilitating cancer development. Consequently, we propose the hypothesis that dysregulation of BMP1 could potentially contribute to the onset and advancement of human cancers. METHODS: In this research, we aimed to analyze BMP1 expression level and the associated clinical outcomes across various cancers using online cancer OMICS databases, advanced Bioinformatics tools, and molecular analyses...
2024: American Journal of Translational Research
https://read.qxmd.com/read/38451587/could-signal-peptide-complement-c1r-c1s-uegf-and-bmp1-and-epidermal-growth-factor-containing-protein-1-be-a-therapeutic-target-in-the-pathogenesis-of-preeclampsia
#4
JOURNAL ARTICLE
Kenan Toprak, Zafer Yıldız, Selim Akdemir, Kamil Esen, Rahime Kada Düken
OBJECTIVE: Determination of biomolecules that play a role in the etiopathogenesis of preeclampsia and their application as therapeutic targets may increase surveillance in this patient group. The aim of this study was to investigate the relationship between signal peptide complement C1r/C1s, Uegf, and Bmp1, and epidermal growth factor-containing protein 1, a marker of endothelial dysfunction and platelet activation, and the development of preeclampsia. METHODS: In this observational cross-sectional study conducted between April 2021 and December 2022, 73 consecutive pregnant women with preeclampsia and 73 healthy pregnant women were included...
2024: Revista da Associação Médica Brasileira
https://read.qxmd.com/read/38373886/genome-wide-identification-and-structural-analysis-of-the-bmp-gene-family-in-triplophysa-dalaica
#5
JOURNAL ARTICLE
Yizheng Zhang, Jinhui Yu, Rui Han, Zhigang Ma, Meng Zhang, Yikai Li, Yongtao Tang, Guoxing Nie, Chuanjiang Zhou
BACKGROUND: Bone morphogenetic proteins (BMPs) are part of the transforming growth factor beta (TGF-β) superfamily and play crucial roles in bone development, as well as in the formation and maintenance of various organs. Triplophysa dalaica, a small loach fish that primarily inhabits relatively high elevations and cooler water bodies, was the focus of this study. Understanding the function of BMP genes during the morphogenesis of T. dalaica helps to clarify the mechanisms of its evolution and serves as a reference for the study of BMP genes in other bony fishes...
February 19, 2024: BMC Genomics
https://read.qxmd.com/read/38369459/periostin-bone-morphogenetic-protein-1-axis-axis-regulates-proliferation-and-osteogenic-differentiation-of-sutured-mesenchymal-stem-cells-and-affects-coronal-suture-closure-in-the-twist1-mouse-model-of-craniosynostosis
#6
JOURNAL ARTICLE
ShuBin Feng, Qiang Feng, LiuJian Dong, Qiang Lv, ShiYue Mei, YaoDong Zhang
BACKGROUND AND OBJECTIVE: The pathogenesis of coronal suture craniosynostosis is often attributed to the dysregulated cellular dynamics, particularly the excessive proliferation and abnormal osteogenic differentiation of suture cells. Despite its clinical significance, the molecular mechanims of this condition remain inadequately understood. This study is dedicated to exploring the influence of the Periostin/Bone Morphogenetic Protein 1 (BMP1) axis on the growth and osteogenic maturation of Suture Mesenchymal Stem Cells (SMSCs), which are pivotal in suture homeostasis...
February 19, 2024: Journal of Orthopaedic Surgery and Research
https://read.qxmd.com/read/38345010/in-silico-molecular-characterization-of-tgf-%C3%AE-gene-family-in-bufo-bufo-genome-wide-analysis
#7
JOURNAL ARTICLE
Mehwish Sultana, Muhammad Tayyab, Sunil, Shakeela Parveen, Muhammad Hussain, Saba Saeed, Zainab Riaz, Saman Shabbir
Bufo bufo is a living example of evolutionary processes due to its numerous physiological and ecological adaptations. This is the first study to genetically characterize the TGF-β gene family in B. bufo at the genome-wide level, and a total of 28 TGF-β gene family homologs are identified. Physicochemical characteristics of TGF-β homologs exhibit a basic nature except for BMP1, BMP4, BMP10, BMP15, AMH, INHA, NODAL Modulator and TGFB1. Phylogenetic analysis divided the TGF-β gene family homologs into 2 major clades along with other vertebrate species...
February 12, 2024: Journal of Biomolecular Structure & Dynamics
https://read.qxmd.com/read/38055815/immunity-linked-genes-are-stimulated-by-a-membrane-stress-pathway-linked-to-golgi-function-and-the-arf-1-gtpase
#8
JOURNAL ARTICLE
Matthew J Fanelli, Christofer M Welsh, Dominique S Lui, Lorissa J Smulan, Amy K Walker
Infection response and other immunity-linked genes (ILGs) were first named in Caenorhabditis elegans -based expression after pathogen challenge, but many are also up-regulated when lipid metabolism is perturbed. Why pathogen attack and metabolic changes both increase ILGs is unclear. We find that ILGs are activated when phosphatidylcholine (PC) levels change in membranes of secretory organelles in C. elegans . RNAi targeting of the ADP-ribosylation factor arf-1 , which disrupts the Golgi and secretory function, also activates ILGs...
December 8, 2023: Science Advances
https://read.qxmd.com/read/38048363/the-g%C3%AE-like-protein-bcgbl1-regulates-development-and-pathogenicity-of-the-gray-mold-botrytis-cinerea-via-modulating-two-map-kinase-signaling-pathways
#9
JOURNAL ARTICLE
Jiejing Tang, Zhe Sui, Ronghui Li, Yuping Xu, Lixuan Xiang, Shiying Fu, Jinfeng Wei, Xuan Cai, Mingde Wu, Jing Zhang, Weidong Chen, Yangdou Wei, Guoqing Li, Long Yang
The fungal Gβ-like protein has been reported to be involved in a variety of biological processes, such as mycelial growth, differentiation, conidiation, stress responses and infection. However, molecular mechanisms of the Gβ-like protein in regulating fungal development and pathogenicity are largely unknown. Here, we show that the Gβ-like protein gene Bcgbl1 in the gray mold fungus Botrytis cinerea plays a pivotal role in development and pathogenicity by regulating the mitogen-activated protein (MAP) kinases signaling pathways...
December 4, 2023: PLoS Pathogens
https://read.qxmd.com/read/38021525/a-rare-case-of-penoscrotal-webbing-and-extensive-hernias-an-anatomical-report-with-genetic-insights
#10
Carley M Olson, Andrey Frolov, Yun Tan, John R Martin, Meadow Campbell
During a routine anatomical dissection of an 81-year-old male cadaver received through the Gift Body Program of Saint Louis University School of Medicine (SLU SOM), a massive bulging in the abdominal area was observed that was consistent with numerous hernia repairs noted in the donor's self-reported medical history. Gross anatomical dissection of the cadaveric body revealed extensive herniation of portions of the small intestine and peritoneal sac along the costal margin and extending to the left aspect of the abdomen...
October 2023: Curēus
https://read.qxmd.com/read/38014644/assessing-type-i-collagen-expression-and-quality-in-cellular-models-of-osteogenesis-imperfecta
#11
JOURNAL ARTICLE
Prajna Udupa, Akshaykumar Nanaji Shrikondawar, Akash Ranjan, Debasish Kumar Ghosh
Osteogenesis imperfecta (OI) is a group of genetic disorders of bone formation characterized by soft and shorter brittle bones in affected individuals. OI is generally considered a collagenopathy resulting from abnormal expression of type I collagen. As assay system to detect the cellular level and quality of type I collagen would help in rapid and correct detection of OI from the diagnostic perspectives. Here, we report an immunofluorescence assay for detection of type I collagen in fibroblast models of OI and represented them into two broad categories based on the expression level and aggregation characteristics of pro-α1(I)...
November 28, 2023: Clinical Genetics
https://read.qxmd.com/read/37919370/doxorubicin-induced-modulation-of-tgf-%C3%AE-signaling-cascade-in-mouse-fibroblasts-insights-into-cardiotoxicity-mechanisms
#12
JOURNAL ARTICLE
Conner Patricelli, Parker Lehmann, Julia Thom Oxford, Xinzhu Pu
Doxorubicin (DOX)-induced cardiotoxicity has been widely observed, yet the specific impact on cardiac fibroblasts is not fully understood. Additionally, the modulation of the transforming growth factor beta (TGF-β) signaling pathway by DOX remains to be fully elucidated. This study investigated DOX's ability to modulate the expression of genes and proteins involved in the TGF-β signaling cascade in mouse fibroblasts from two sources by assessing the impact of DOX treatment on TGF-β inducible expression of pivotal genes and proteins within fibroblasts...
November 2, 2023: Scientific Reports
https://read.qxmd.com/read/37914865/in-silico-analysis-genome-wide-identification-characterization-and-evolutionary-adaptations-of-bone-morphogenetic-protein-bmp-gene-family-in-homo-sapiens
#13
JOURNAL ARTICLE
Zainab Riaz, Muhammad Hussain, Shakeela Parveen, Mehwish Sultana, Saba Saeed, Urwah Ishaque, Zunaira Faiz, Muhammad Tayyab
We systematically analyzed BMP gene family in H. sapiens to elucidate genetic structure, phylogenetic relationships, adaptive evolution and tissue-specific expression pattern. Total of 13 BMPs genes were identified in the H. sapiens genome. Bone morphogenetic proteins (BMPs) are composed of a variable number of exons ranging from 2 to 21. They exhibit a molecular weight ranging from 31,081.81 to 82,899.61 Da. These proteins possess hydrophilic characteristics, display thermostability, and exhibit a pH range from acidic to basic...
November 1, 2023: Molecular Biotechnology
https://read.qxmd.com/read/37866885/sulfasalazine-a-potent-cystine-glutamate-transporter-inhibitor-enhances-osteogenic-differentiation-of-canine-adipose-derived-stem-cells
#14
JOURNAL ARTICLE
Harumichi Itoh, Kenji Tani, Hiroshi Sunahara, Yuki Nemoto, Munekazu Nakaichi, Hiro Horikirizono, Kazuhito Itamoto
Cystine-glutamate transporter (xCT) is a plasma membrane transporter that imports cystine and indirectly contributes to the oxidative stress resistance associated with increased intracellular glutathione levels. Canine adipose-derived stem cells (CADSCs) include an xCT-positive subpopulation and show relatively low expression of osteogenic markers during in vitro osteogenic differentiation. Sulfasalazine (SSZ), a drug used to treat rheumatoid arthritis, suppresses xCT expression in cancer cells. In this study, we found that the SSZ treatment at 100 µM significantly suppressed xCT mRNA expression in CADSCs but did not significantly affect cell proliferation under the same conditions...
October 20, 2023: Journal of Veterinary Medical Science
https://read.qxmd.com/read/37848987/upregulation-of-bmp1-through-ncrnas-correlates-with-adverse-outcomes-and-immune-infiltration-in-clear-cell-renal-cell-carcinoma
#15
JOURNAL ARTICLE
Mancheng Gong, Shengxing Feng, Dongsheng Zhou, Jinquan Luo, Tianxin Lin, Shaopeng Qiu, Runqiang Yuan, Wenjing Dong
BACKGROUND: Renal cell carcinoma (RCC) accounts for approximately 2-3% of all adult malignancies. Clear cell renal cell carcinoma (ccRCC), which comprises 70-80% of all RCC cases, is the most common histological subtype. METHODS: ccRCC transcriptome data and clinical information were downloaded from the TCGA database. We used the TCGA and GEPIA databases to analyze relative expression of BMP1 in various types of human cancer. GEPIA was used to perform survival analysis for BMP1 in various cancer types...
October 17, 2023: European Journal of Medical Research
https://read.qxmd.com/read/37759884/transcriptome-wide-analysis-of-neutrophil-related-circ_22232-in-neuroinflammation-from-ischemic-stroke-mice
#16
JOURNAL ARTICLE
Zheng Sun, Youdong Zhou, Yanting Liu, Ran Luo, Chunlei Tian, Qianxue Chen
Ischemic stroke (IS) often leads to high rates of disability and mortality worldwide with secondary damage due to neuroinflammation. Identification of potential therapeutic targets via the novel circular RNAs (circRNAs) would advance the field and provide a better treatment option for neuroinflammation after IS. Gene Ontology Term Enrichment (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) were applied to identify differentially expressed genes/miRNAs/circRNAs in the genome-wide RNA-seq profiles of ischemic mice...
September 4, 2023: Brain Sciences
https://read.qxmd.com/read/37670876/effect-of-quercetin-on-steroidogenesis-and-folliculogenesis-in-ovary-of-mice-with-experimentally-induced-polycystic-ovarian-syndrome
#17
JOURNAL ARTICLE
Mohd Zahoor Ul Haq Shah, Vinoy Kumar Shrivastva, Manzoor Ahmad Mir, Wajid Mohammad Sheikh, Mohd Ashraf Ganie, Gulzar Ahmed Rather, Majid Shafi, Showkeen Muzamil Bashir, Mohammad Azam Ansari, Meneerah A Al-Jafary, Mohammad H Al-Qhtani, Abdalelgadir Musa Homeida, Ebtesam A Al-Suhaimi
INTRODUCTION: Polycystic Ovary syndrome (PCOS) affects the health of many women around theworld. Apart from fundamental metabolic problems connected to PCOS, focus of our study is on the role of quercetin on genes relevant to steroidogenesis and folliculogenesis. METHODS: Eighteen mature parkes strain mice (4-5 weeks old) weighing18-21 g were randomly divided into three groups of six each as follows: Group I serves as the control and was given water and a regular chow diet ad lib for 66 days; group II was given oral gavage administration of letrozole (LETZ) (6 mg/kgbw) for 21 days to induce PCOS and was left untreated for 45 days; For three weeks, Group III received oral gavage dose of LETZ (6 mg/kg), after which it received Quercetin (QUER) (125 mg/kg bw orally daily) for 45 days...
2023: Frontiers in Endocrinology
https://read.qxmd.com/read/37558119/chronic-exposure-to-environmentally-relevant-concentration-of-fluoride-impairs-osteoblast-s-collagen-synthesis-and-matrix-mineralization-involvement-of-epigenetic-regulation-in-skeletal-fluorosis
#18
JOURNAL ARTICLE
Arpan Dey Bhowmik, Tanmoy Das, Ansuman Chattopadhyay
Globally, 200 million people are suffering from toxic manifestations of Fluoride(F), dental and skeletal fluorosis; unfortunately, there is no treatment. To unravel the pathogenesis of skeletal fluorosis, we established fluorosis mice by treating environmentally relevant concentration of F (15 ppm NaF) through drinking water for 4 months. As in skeletal fluorosis, locomotor disability, crippling deformities occur and thus, our hypothesis was F might adversely affects collagen which gives the bone tensile strength...
August 7, 2023: Environmental Research
https://read.qxmd.com/read/37551853/cub-domains-are-not-required-for-ovch2-function-in-sperm-maturation-in-the-mouse-epididymis
#19
JOURNAL ARTICLE
Katarzyna Kent, Kaori Nozawa, Courtney Sutton, Frey Daniel, Masahito Ikawa, Thomas X Garcia, Martin M Matzuk
BACKGROUND: Ovochymase 2 (Ovch2) is an epididymis-specific gene that is required for male fertility. While a multitude of reproductive tract-specific genes required for male fertility have been identified, OVCH2 is thus far the first protein required for male fertility that contains Complement C1r/C1s, Uegf, Bmp1 (CUB) domains located in tandem in the C-terminus of the protein. Identifying the functional significance of this unique domain has implications in better understanding fertility and infertility and as a potential contraceptive target...
August 8, 2023: Andrology
https://read.qxmd.com/read/37546862/doxorubicin-induced-modulation-of-tgf-%C3%AE-signaling-cascade-in-mouse-fibroblasts-insights-into-cardiotoxicity-mechanisms
#20
Conner Patricelli, Parker Lehmann, Julia Thom Oxford, Xinzhu Pu
Doxorubicin (DOX)-induced cardiotoxicity has been widely observed, yet the specific impact on cardiac fibroblasts is not fully understood. Additionally, the modulation of the transforming growth factor beta (TGF-β) signaling pathway by DOX remains to be fully elucidated. This study investigated DOX's ability to modulate the expression of genes and proteins involved in the TGF-β signaling cascade in mouse fibroblasts from two sources by assessing the impact of DOX treatment on TGF-β inducible expression of pivotal genes and proteins within fibroblasts...
July 27, 2023: Research Square
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