keyword
https://read.qxmd.com/read/38117077/proteoglycan-inhibition-of-canonical-bmp-dependent-cartilage-maturation-delays-endochondral-ossification
#21
JOURNAL ARTICLE
Elham Koosha, Connor T A Brenna, Amir M Ashique, Niteesh Jain, Katie Ovens, Toshiyasu Koike, Hiroshi Kitagawa, B Frank Eames
During endochondral ossification, chondrocytes secrete a proteoglycan (PG)-rich extracellular matrix that can inhibit the process of cartilage maturation, including expression of Ihh and Col10a1. Because bone morphogenetic proteins (BMPs) can promote cartilage maturation, we hypothesized that cartilage PGs normally inhibit BMP signalling. Accordingly, BMP signalling was evaluated in chondrocytes of wild-type and PG mutant (fam20b-/-) zebrafish and inhibited with temporal control using the drug DMH1 or an inducible dominant-negative BMP receptor transgene (dnBMPR)...
December 20, 2023: Development
https://read.qxmd.com/read/38114053/mechanical-stress-can-regulate-temporomandibular-joint-cavitation-via-signalling-pathways
#22
REVIEW
Yilin She, Rong Ren, Nan Jiang
The temporomandibular joint (TMJ), composed of temporal fossa, mandibular condyle and a fibrocartilage disc with upper and lower cavities, is the biggest synovial joint and biomechanical hinge of the craniomaxillofacial musculoskeletal system. The initial events that give rise to TMJ cavities across diverse species are not fully understood. Most studies focus on the pivotal role of molecules such as Indian hedgehog (Ihh) and hyaluronic acid (HA) in TMJ cavitation. Although biologists have observed that mechanical stress plays an irreplaceable role in the development of biological tissues and organs, few studies have been concerned with how mechanical stress regulates TMJ cavitation...
December 17, 2023: Developmental Biology
https://read.qxmd.com/read/38051593/hedgehog-activation-promotes-osteogenic-fates-of-growth-plate-resting-zone-chondrocytes-through-transient-clonal-competency
#23
JOURNAL ARTICLE
Shion Orikasa, Yuki Matsushita, Hiroaki Manabe, Michael Fogge, Zachary J Lee, Koji Mizuhashi, Naoko Sakagami, Wanida Ono, Noriaki Ono
The resting zone of the postnatal growth plate is organized by slow-cycling chondrocytes expressing parathyroid hormone-related protein (PTHrP), which include a subgroup of skeletal stem cells that contribute to the formation of columnar chondrocytes. The PTHrP-indian hedgehog (Ihh) feedback regulation is essential for sustaining growth plate activities; however, molecular mechanisms regulating cell fates of PTHrP+ resting chondrocytes and their eventual transformation into osteoblasts remain largely undefined...
December 5, 2023: JCI Insight
https://read.qxmd.com/read/38019761/bushenhuoxue-formula-promotes-osteogenic-differentiation-via-affecting-hedgehog-signaling-pathway-in-bone-marrow-stem-cells-to-improve-osteoporosis-symptoms
#24
JOURNAL ARTICLE
Yuqi Chen, ZhiYong Wei, HongXia Shi, Xin Wen, YiRan Wang, Rong Wei
BACKGROUND: The BushenHuoxue formula (BSHX) has been previously demonstrated to ameliorate osteoporosis, but the mechanisms underlying this phenomenon are currently unclear. The present study aims at investigating the mechanisms that BSHX induces osteogenesis. METHODS: We established an osteoporosis model in rats by bilateral ovariectomy and then treated the rats with an osteogenic inducer (dexamethasone, β-sodium glycerophosphate and Vitamin C) and BSHX. After that, bone marrow density and histopathological bone examination were evaluated by using HE staining and immunohistochemistry, respectively...
2023: PloS One
https://read.qxmd.com/read/37972802/lncrna-malat1-regulates-ipsc-derived-%C3%AE-cell-differentiation-by-targeting-the-mir-15b-5p-ihh-axis
#25
JOURNAL ARTICLE
Yao Wang, Haoxiang Ding, Chengfeng Guo, Qian Bao, Dongqian Li, Yicheng Xiong
BACKGROUND: Differentiation of induced pluripotent stem cell (iPSC)-derived β-like cells is a novel strategy for treatment of type 1 diabetes. Elucidation of the regulatory mechanisms of long noncoding RNAs (lncRNAs) in β-like cells derived from iPSCs is important for understanding the development of the pancreas and pancreatic β-cells and may improve the quality of β-like cells for stem cell therapy. METHODS: β-like cells were derived from iPSCs in a three-step protocol...
November 14, 2023: Cellular Signalling
https://read.qxmd.com/read/37964167/hsa-mir-15b-5p-mir-195-5p-controls-osteogenic-differentiation-of-human-adipose-derived-mesenchymal-stem-cells-through-regulating-indian-hedgehog-expression
#26
JOURNAL ARTICLE
Samaneh Harimi, Behzad Khansarinejad, Farzaneh Fesahat, Mahdieh Mondanizadeh
Osteoblastogenesis is regulated by several signaling pathways like hedgehog signaling. Of three types of mammalian Hedgehog genes, the Indian Hedgehog (Ihh) plays an important role in the formation of the skeleton. Mesenchymal stem cells (MSCs) isolated from adipose tissue have been considered a good source of osteoblast differentiation. Evidence also suggests that miRNAs play an important role in regulating key stages of osteoblast differentiation. In this study, two miRNAs targeting the Ihh were predicted by using bioinformatics analysis...
November 15, 2023: Applied Biochemistry and Biotechnology
https://read.qxmd.com/read/37949211/the-molecular-mechanisms-of-glycosaminoglycan-biosynthesis-regulating-chondrogenesis-and-endochondral-ossification
#27
REVIEW
Yongjian Chen, Khalid Mehmood, Yung-Fu Chang, Zhaoxin Tang, Ying Li, Hui Zhang
Disorders of chondrocyte differentiation and endochondral osteogenesis are major underlying factors in skeletal developmental disorders, including tibial dysplasia (TD), osteoarthritis (OA), chondrodysplasia (ACH), and multiple epiphyseal dysplasia (MED). Understanding the cellular and molecular pathogenesis of these disorders is crucial for addressing orthopedic diseases resulting from impaired glycosaminoglycan synthesis. Glycosaminoglycan is a broad term that refers to the glycan component of proteoglycan macromolecules...
November 8, 2023: Life Sciences
https://read.qxmd.com/read/37904627/embryonic-inhibition-of-colony-stimulating-factor-1-receptor-induces-enlarged-cartilaginous-zone-of-the-midpalatal-suture-in-postnatal-mice
#28
JOURNAL ARTICLE
Lai Yongzhen, Guo Yan, Liu Jing, Ren Chenyan, Mao Chuanqing, Shi Yun, Chen Weihui
OBJECTIVES: The midpalatal suture acts as the growth centre of the maxilla. Colony-stimulating factor 1 receptor (CSF1R) is essential for osteoclastogenesis. Deletion of CSF1R, and its ligand, results in significant craniofacial phenotypes but has not been studied in detail in the midpalatal suture. MATERIALS AND METHODS: Pregnant ICR mice were treated with the CSF1R inhibitor PLX5622 at embryo Day 14.5 (E14.5) to E17.5. Pups at E18.5, postnatal Day 3 (P3) and P7 were collected for skeletal and histological staining...
October 31, 2023: Orthodontics & Craniofacial Research
https://read.qxmd.com/read/37895082/cranial-neural-crest-specific-deletion-of-alpl-tnap-via-p0-cre-causes-abnormal-chondrocyte-maturation-and-deficient-cranial-base-growth
#29
JOURNAL ARTICLE
Naoto Ohkura, Hwa Kyung Nam, Fei Liu, Nan Hatch
Bone growth plate abnormalities and skull shape defects are seen in hypophosphatasia, a heritable disorder in humans that occurs due to the deficiency of tissue nonspecific alkaline phosphatase (TNAP, Alpl ) enzyme activity. The abnormal development of the cranial base growth plates (synchondroses) and abnormal skull shapes have also been demonstrated in global Alpl -/- mice. To distinguish local vs. systemic effects of TNAP on skull development, we utilized P0-Cre to knockout Alpl only in cranial neural crest-derived tissues using Alpl flox mice...
October 20, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/37892645/exploring-the-genetic-causes-for-postnatal-growth-failure-in-children-born-non-small-for-gestational-age
#30
JOURNAL ARTICLE
Yoo-Mi Kim, Han-Hyuk Lim, Eunhee Kim, Geena Kim, Minji Kim, Hyejin So, Byoung Kook Lee, Yoowon Kwon, Jeesu Min, Young Seok Lee
The most common causes of short stature (SS) in children are familial short stature (FSS) and idiopathic short stature (ISS). Recently, growth plate dysfunction has been recognized as the genetic cause of FSS or ISS. The aim of this study was to investigate monogenic growth failure in patients with ISS and FSS. Targeted exome sequencing was performed in patients categorized as ISS or FSS and the subsequent response to growth hormone (GH) therapy was analyzed. We found 17 genetic causes involving 12 genes ( NPR2 , IHH , BBS1 , COL1A1 , COL2A1 , TRPS1 , MASP1 , SPRED1 , PTPTN11 , ADNP , NADSYN1 , and CERT1 ) and 2 copy number variants...
October 13, 2023: Journal of Clinical Medicine
https://read.qxmd.com/read/37881642/application-of-human-menopausal-gonadotropins-in-the-treatment-of-idiopathic-hypogonadotropic-hypogonadism-ihh-based-infertility-in-females-a-case-report
#31
Ying-Jie Ma, Meng-Yao Li, Jing-Yan Song, Zhen-Gao Sun
RATIONALE: Idiopathic hypogonadotropic hypogonadism (IHH) is a prevalent congenital genetic disorder with multiple inheritance patterns. IHH can manifest as normal hypogonadotrophic sexual hypofunction (nIHH) or with an abnormal sense of smell, known as Kallmann. It primarily affects the production and effectiveness of gonadotropin-releasing-hormone (GnRh), leading to reduced follicle-stimulating hormone and luteinizing hormone levels. This results in infertility and underdeveloped secondary sexual characteristics...
2023: International Medical Case Reports Journal
https://read.qxmd.com/read/37833946/impact-of-hypoxia-hyperoxia-exposures-on-cardiometabolic-risk-factors-and-tmao-levels-in-patients-with-metabolic-syndrome
#32
JOURNAL ARTICLE
Afina Bestavashvili, Oleg Glazachev, Shabnam Ibragimova, Alexander Suvorov, Alexandros Bestavasvili, Shevket Ibraimov, Xinliang Zhang, Yong Zhang, Chavdar Pavlov, Elena Syrkina, Abram Syrkin, Philipp Kopylov
Along with the known risk factors of cardiovascular diseases (CVDs) constituting metabolic syndrome (MS), the gut microbiome and some of its metabolites, in particular trimethylamine-N-oxide (TMAO), are actively discussed. A prolonged stay under natural hypoxic conditions significantly and multi-directionally changes the ratio of gut microbiome strains and their metabolites in feces and blood, which is the basis for using hypoxia preconditioning for targeted effects on potential risk factors of CVD. A prospective randomized study included 65 patients (32 females) with MS and optimal medical therapy...
September 24, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/37814704/clinical-and-molecular-features-of-40-chinese-patients-with-idiopathic-hypogonadotropic-hypogonadism
#33
JOURNAL ARTICLE
Yuanfan Wang, Weijun Jiang, Xinyi Xia
BACKGROUND: Male idiopathic hypogonadotropic hypogonadism (IHH) is a heterogeneous clinical rare genetic disorder that can be divided into two forms: Kallmann syndrome (KS) and olfactory normal IHH (nIHH). Nearly half of unknown pathogenic genes and related pathogenic mechanisms have yet to be explored. METHODS: Clinical data of 40 IHH patients (22 KS and 18 nIHH) were retrospectively recorded. All patients were diagnosed at the Department of Endocrinology of Jinling Hospital, Jiangsu Provincial People's Hospital, and the First Affiliated Hospital of the University of Science and Technology of China from 2014 to 2021...
September 30, 2023: Translational Andrology and Urology
https://read.qxmd.com/read/37809703/knockdown-of-long-non-coding-rna-snhg3-inhibits-proliferation-migration-and-invasion-of-human-thyroid-cancer-via-mir-339-5p-gpr62-axis
#34
JOURNAL ARTICLE
Jin Tang, Xiao-Xia Huang
Previous studies have implicated SNHG3, a long non-coding RNA, in various human cancers, suggesting its oncogenic role. However, its specific involvement in thyroid cancer and the underlying molecular mechanisms remain unclear. Therefore, this study aims to elucidate the role of SNHG3 in human thyroid cancer and its interaction with the miR-339-5p/GPR62 axis. Understanding these mechanisms could provide insights into potential therapeutic targets for managing thyroid cancer. Results revealed significant upregulation of SNHG3 in human thyroid cancer tissues and cell lines...
September 2023: Heliyon
https://read.qxmd.com/read/37805627/super-enhancer-hijacking-drives-ectopic-expression-of-hedgehog-pathway-ligands-in-meningiomas
#35
JOURNAL ARTICLE
Mark W Youngblood, Zeynep Erson-Omay, Chang Li, Hinda Najem, Süleyman Coșkun, Evgeniya Tyrtova, Julio D Montejo, Danielle F Miyagishima, Tanyeri Barak, Sayoko Nishimura, Akdes Serin Harmancı, Victoria E Clark, Daniel Duran, Anita Huttner, Timuçin Avşar, Yasar Bayri, Johannes Schramm, Julien Boetto, Matthieu Peyre, Maximilien Riche, Roland Goldbrunner, Nduka Amankulor, Angeliki Louvi, Kaya Bilgüvar, M Necmettin Pamir, Koray Özduman, Türker Kilic, James R Knight, Matthias Simon, Craig Horbinski, Michel Kalamarides, Marco Timmer, Amy B Heimberger, Ketu Mishra-Gorur, Jennifer Moliterno, Katsuhito Yasuno, Murat Günel
Hedgehog signaling mediates embryologic development of the central nervous system and other tissues and is frequently hijacked by neoplasia to facilitate uncontrolled cellular proliferation. Meningiomas, the most common primary brain tumor, exhibit Hedgehog signaling activation in 6.5% of cases, triggered by recurrent mutations in pathway mediators such as SMO. In this study, we find 35.6% of meningiomas that lack previously known drivers acquired various types of somatic structural variations affecting chromosomes 2q35 and 7q36...
October 7, 2023: Nature Communications
https://read.qxmd.com/read/37805574/how-human-genetic-context-can-inform-pathogenicity-classification-fgfr1-variation-in-idiopathic-hypogonadotropic-hypogonadism
#36
JOURNAL ARTICLE
Wanxue Xu, Lacey Plummer, Stephanie B Seminara, Ravikumar Balasubramanian, Margaret F Lippincott
Precision medicine requires precise genetic variant interpretation, yet many disease-associated genes have unresolved variants of unknown significance (VUS). We analyzed variants in a well-studied gene, FGFR1, a common cause of Idiopathic Hypogonadotropic Hypogonadism (IHH) and examined whether regional genetic enrichment of missense variants could improve variant classification. FGFR1 rare sequence variants (RSVs) were examined in a large cohort to (i) define regional genetic enrichment, (ii) determine pathogenicity based on the American College of Medical Genetics/Association for Molecular Pathology (ACMG/AMP) variant classification framework, and (iii) characterize the phenotype of FGFR1 variant carriers by variant classification...
November 2023: Human Genetics
https://read.qxmd.com/read/37799300/clinical-manifestations-genetic-variants-and-therapeutic-evaluation-in-sporadic-chinese-patients-with-idiopathic-hypogonadotropic-hypogonadism
#37
JOURNAL ARTICLE
Dongye He, Hailing Sun, Mei Zhang, Yanying Li, Fupeng Liu, Yanhong Zhang, Mingming He, Bo Ban
PURPOSE: Genetic factors account for a large proportion of idiopathic hypogonadotropic hypogonadism (IHH) etiologies, although not necessarily a complete genetic basis. This study aimed to characterize the clinical presentations, genetic variants, and therapeutic outcomes of patients with sporadic IHH, which may be helpful for genetic counseling and treatment decisions. PATIENTS AND METHODS: Eleven Chinese patients with IHH were retrospectively analyzed. Rare genetic variants were evaluated using whole-exome sequencing and bioinformatics analysis and were further classified according to the ACMG-AMP guidelines...
2023: International Journal of General Medicine
https://read.qxmd.com/read/37798680/idiopathic-hypogonadotropic-hypogonadism-caused-by-compound-heterozygosity-for-two-novel-mutations-in-the-gnrh1-gene-a-case-report
#38
JOURNAL ARTICLE
Qingqing Tian, Jingjing Tang, Lihong Wang, Jiaojiao Liu, Xiangshan Li, Zhuozhuo Cao, Zhufang Tian
BACKGROUND: Idiopathic hypogonadotropic hypogonadism (IHH) is a rare congenital or acquired genetic disorder caused by gonadotropin-releasing hormone (GnRH) deficiency. IHH patients are divided into two major groups, hyposmic or anosmic IHH (Kallmann syndrome) and normosmic IHH (nIHH), according to whether their sense of smell is intact. Here we report a case of novel compound heterozygous mutations in the GNRH1 gene in a 15-year-old male with nIHH. CASE PRESENTATION: The patient presented typical clinical symptoms of delayed testicular development, with testosterone < 3...
October 5, 2023: BMC Endocrine Disorders
https://read.qxmd.com/read/37712962/a-clinicopathological-exploration-of-hedgehog-signaling-implications-in-oral-carcinogenesis
#39
JOURNAL ARTICLE
Hitarth V Patel, Jigna S Joshi, Franky D Shah
INTRODUCTION: Hedgehog Signaling, a basic cancer stem cell pathway, plays a major role during the embryonic development, is known to play a quiescent role in adults. However, aberrant activation of Hedgehog signaling in adults is known to play a role in cancer development. Hence, the aim of the study was to identify the role of Hedgehog signaling pathway in the Oral cancers. MATERIALS AND METHODS: The expression of Hedgehog signaling pathway was evaluated in 124 patients through the quantitative real-time PCR...
September 15, 2023: Journal of Cancer Research and Clinical Oncology
https://read.qxmd.com/read/37696385/a-tumor-suppressing-role-of-tspyl2-in-thyroid-cancer-through-interacting-with-sirt1-and-repressing-sirt1-akt-pathway
#40
JOURNAL ARTICLE
Xin Zhang, Xin Wu, Wei Yao, Yi-Hui Wang
Thyroid cancer is one of the most common endocrine cancers. Testis-specific protein, Y-encoded-like 2 (TSPYL2) belongs to the TSPY family. Studies show that TSPYL2 plays as a cancer suppressor in several cancers. However, the role of TSPYL2 in thyroid cancer remains elusive. In the present study, the expression of TSPYL2 in human central papillary thyroid cancer (PTC) tissues and corresponding para-cancer tissues was detected by qPCR and Western blot. The gain- and loss-of-function studies for TSPYL2 were performed in TPC-1 cells and IHH-4 cells...
September 9, 2023: Experimental Cell Research
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