723 results match your criteria bmpr1a variantsmethods

mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in juvenile polyposis of infancy due to PTEN-BMPR1A deletion syndrome.

Hum Mol Genet 2021 Apr 2. Epub 2021 Apr 2.

Translational Gastroenterology Unit, University of Oxford, Oxford, United Kingdom.

Background: Ultrarare genetic disorders can provide proof of concept for efficacy of targeted therapeutics and reveal pathogenic mechanisms relevant to more common conditions. Juvenile polyposis of infancy (JPI) is caused by microdeletions in chromosome 10 that result in haploinsufficiency of two tumor suppressor genes: phosphatase and tensin homolog deleted on chromosome 10 (PTEN) and bone morphogenetic protein receptor, type IA (BMPR1A). Loss of PTEN and BMPR1A results in a much more severe phenotype then deletion of either gene alone, with infantile onset pan-enteric polyposis and a high mortality rate. Read More

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Distinct tooth regeneration systems deploy a conserved battery of genes.

Evodevo 2021 Mar 25;12(1). Epub 2021 Mar 25.

Department of Molecular & Cell Biology, University of California, Berkeley, USA.

Background: Vertebrate teeth exhibit a wide range of regenerative systems. Many species, including most mammals, reptiles, and amphibians, form replacement teeth at a histologically distinct location called the successional dental lamina, while other species do not employ such a system. Notably, a 'lamina-less' tooth replacement condition is found in a paraphyletic array of ray-finned fishes, such as stickleback, trout, cod, medaka, and bichir. Read More

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Disease spectrum of gastric cancer susceptibility genes.

Med Oncol 2021 Mar 24;38(5):46. Epub 2021 Mar 24.

Division of Surgical Oncology, Massachusetts General Hospital and Harvard Medical School, 55 Fruit Street, Yawkey 7, Boston, MA, 02114, USA.

Pathogenic variants in germline cancer susceptibility genes can increase the risk of a large number of diseases. Our study aims to assess the disease spectrum of gastric cancer susceptibility genes and to develop a comprehensive resource of gene-disease associations for clinicians. Twenty-seven potential germline gastric cancer susceptibility genes were identified from three review articles and from six commonly used genetic information resources. Read More

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Single-cell transcriptome dissection of the toxic impact of Di (2-ethylhexyl) phthalate on primordial follicle assembly.

Theranostics 2021 5;11(10):4992-5009. Epub 2021 Mar 5.

College of Life Sciences, Key Laboratory of Animal Reproduction and Germplasm Enhancement in Universities of Shandong, Qingdao Agricultural University, Qingdao 266109, China.

Accumulated evidence indicates that environmental plasticizers are a threat to human and animal fertility. Di (2-ethylhexyl) phthalate (DEHP), a plasticizer to which humans are exposed daily, can trigger reproductive toxicity by acting as an endocrine-disrupting chemical. In mammals, the female primordial follicle pool forms the lifetime available ovarian reserve, which does not undergo regeneration once it is established during the fetal and neonatal period. Read More

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Mesenchymal stem cells overexpressing BMP-9 by CRISPR-Cas9 present high in vitro osteogenic potential and enhance in vivo bone formation.

Gene Ther 2021 Mar 8. Epub 2021 Mar 8.

Bone Research Lab, School of Dentistry of Ribeirão Preto, University of São Paulo, Ribeirão Preto, SP, Brazil.

Cell therapy is a valuable strategy for the replacement of bone grafts and repair bone defects, and mesenchymal stem cells (MSCs) are the most frequently used cells. This study was designed to genetically edit MSCs to overexpress bone morphogenetic protein 9 (BMP-9) using Clustered Regularly Interspaced Short Palindromic Repeats/associated nuclease Cas9 (CRISPR-Cas9) technique to generate iMSCs-VPR, followed by in vitro evaluation of osteogenic potential and in vivo enhancement of bone formation in rat calvaria defects. Overexpression of BMP-9 was confirmed by its gene expression and protein expression, as well as its targets Hey-1, Bmpr1a, and Bmpr1b, Dlx-5, and Runx2 and  protein expression of SMAD1/5/8 and pSMAD1/5/8. Read More

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BMPR1A maintains skeletal stem cell properties in craniofacial development and craniosynostosis.

Sci Transl Med 2021 Mar;13(583)

Center for Oral Biology, University of Rochester Medical Center, Rochester, NY 14642, USA.

Skeletal stem cells from the suture mesenchyme, which are referred to as suture stem cells (SuSCs), exhibit long-term self-renewal, clonal expansion, and multipotency. These SuSCs reside in the suture midline and serve as the skeletal stem cell population responsible for calvarial development, homeostasis, injury repair, and regeneration. The ability of SuSCs to engraft in injury site to replace the damaged skeleton supports their potential use for stem cell-based therapy. Read More

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Time Trends in Receipt of Germline Genetic Testing and Results for Women Diagnosed With Breast Cancer or Ovarian Cancer, 2012-2019.

J Clin Oncol 2021 Feb 9:JCO2002785. Epub 2021 Feb 9.

Department of Health Management and Policy, School of Public Health, Department of Biostatistics, University of Michigan, Ann Arbor, MI.

Purpose: Genetic testing is important for breast and ovarian cancer risk reduction and treatment, yet little is known about its evolving use.

Methods: SEER records of women of age ≥ 20 years diagnosed with breast or ovarian cancer from 2013 to 2017 in California or Georgia were linked to the results of clinical germline testing through 2019. We measured testing trends, rates of variants of uncertain significance (VUS), and pathogenic variants (PVs). Read More

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February 2021

Enhanced BMP signalling causes growth plate cartilage dysrepair in rats.

Bone 2021 Apr 4;145:115874. Epub 2021 Feb 4.

University of South Australia, UniSA Clinical and Health Sciences, Adelaide, SA 5001, Australia; Department of Orthopedics, Tongji Hospital, Tongji University, Shanghai 200065, China; Ningbo No. 6 Hospital, Ningbo University, Ningbo 315040, China. Electronic address:

Growth plate cartilage injuries often result in bony repair at the injury site and premature mineralisation at the uninjured region causing bone growth defects, for which underlying mechanisms are unclear. With the prior microarray study showing upregulated bone morphogenetic protein (BMP) signalling during the injury site bony repair and with the known roles of BMP signalling in bone healing and growth plate endochondral ossification, this study used a rat tibial growth plate drill-hole injury model with or without systemic infusion of BMP antagonist noggin to investigate roles of BMP signalling in injury repair responses within the injury site and in the adjacent "uninjured" cartilage. At days 8, 14 and 35 post-injury, increased expression of BMP members and receptors and enhanced BMP signalling (increased levels of phosphorylated (p)-Smad1/5/8) were found during injury site bony repair. Read More

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Polydopamine coating with static magnetic field promotes the osteogenic differentiation of human bone-derived mesenchymal stem cells on three-dimensional printed porous titanium scaffolds by upregulation of the BMP-Smads signaling pathway.

Am J Transl Res 2020 15;12(12):7812-7825. Epub 2020 Dec 15.

Department of Orthopaedics, Shandong Provincial Hospital Affiliated to Shandong First Medical University No. 324, Jingwu Road, Jinan 250021, Shandong, P. R. China.

Bone regeneration has always been a hot topic for orthopedic surgeons. The role of polydopamine coating in promoting bone regeneration has attracted much attention. Static magnetic field (SMF) is considered an effective and noninvasive treatment for enhancing bone regeneration. Read More

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December 2020

Up-regulation of TβRIII facilitates the osteogenesis of supraspinous ligament-derived fibroblasts from patients with ankylosing spondylitis.

J Cell Mol Med 2021 Feb 6;25(3):1613-1623. Epub 2021 Jan 6.

Department of Orthopaedics, Xinqiao Hospital, Army Military Medical University, Chongqing, China.

Spinal supraspinous ligament (SL) osteogenesis is the key risk of ankylosing spondylitis (AS), with an unclear pathogenesis. We previously found that transforming growth factor β1 (TGF-β1), bone morphogenetic proteins (eg BMP2) and type III TGF-β1 receptor (TβRIII) expression were markedly up-regulated in AS-SLs. However, the roles of these closely related molecules in AS are unknown. Read More

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February 2021

Non-familial Juvenile Polyposis Syndrome Presenting as Rectal Prolapse: An Unusual Presentation of a Rare Disease.

Cureus 2020 Oct 28;12(10):e11222. Epub 2020 Oct 28.

Surgical Oncology, Federal Government Poly Clinic (Post Graduate Medical Institute), Islamabad, PAK.

Juvenile polyposis syndrome is a rare inherited disorder that afflicts the gastrointestinal system. It usually occurs as a result of gene mutations; to date, several gene mutations, including those involving the bone morphogenetic protein receptor type IA (BMPR1A) gene, have been implicated in heralding the onset of the ailment. The disease is characterized by the infiltration of the gastrointestinal system with numerous hamartomas, which are predominantly benign. Read More

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October 2020

Genome-Wide Association Analysis Identified as a Novel Candidate Gene Affecting the Number of Thoracic Vertebrae in a Large White × Minzhu Intercross Pig Population.

Animals (Basel) 2020 Nov 22;10(11). Epub 2020 Nov 22.

Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing 100193, China.

The number of vertebrae (NV), especially the number of thoracic vertebrae (NTV), varies among pig breeds. The NTV is controlled by vertebral segmentation and the number of somites during embryonic development. Although there is a high correlation between the NTV and NV, studies on a fixed NV have mainly considered the absolute numbers of thoracic vertebrae instead of vertebral segmentation. Read More

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November 2020

Bone morphogenetic protein signaling regulates skin inflammation via modulating dendritic cell function.

J Allergy Clin Immunol 2020 Oct 22. Epub 2020 Oct 22.

Otto Loewi Research Center, Division of Immunology and Pathophysiology, Medical University of Graz, Graz, Austria. Electronic address:

Background: Bone morphogenetic proteins (BMPs) are members of the TGF-β family that signal via the BMP receptor (BMPR) signaling cascade, distinct from canonical TGF-β signaling. BMP downstream signaling is strongly induced within epidermal keratinocytes in cutaneous psoriatic lesions, and BMP7 instructs monocytic cells to acquire characteristics of psoriasis-associated Langerhans dendritic cells (DCs). Regulatory T (Treg)-cell numbers strongly increase during psoriatic skin inflammation and were recently shown to limit psoriatic skin inflammation. Read More

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October 2020

Borax induces osteogenesis by stimulating NaBC1 transporter via activation of BMP pathway.

Commun Biol 2020 Nov 27;3(1):717. Epub 2020 Nov 27.

Biomedical Research Networking Center in Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), 28029, Madrid, Spain.

The intrinsic properties of mesenchymal stem cells (MSCs) make them ideal candidates for tissue engineering applications. Efforts have been made to control MSC behavior by using material systems to engineer synthetic extracellular matrices and/or include soluble factors in the media. This work proposes a simple approach based on ion transporter stimulation to determine stem cell fate that avoids the use of growth factors. Read More

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November 2020

Structural basis for inhibitory effects of Smad7 on TGF-β family signaling.

J Struct Biol 2020 12 7;212(3):107661. Epub 2020 Nov 7.

Laboratory for Protein Functional and Structural Biology, RIKEN Center for Biosystems Dynamics Research, Yokohama, 1-7-22 Suehiro-cho, Tsurumi, Yokohama 230-0045, Japan. Electronic address:

Smad6 and Smad7 are classified as inhibitory Smads (I-Smads). They are crucial in the fine-tuning of signals by cytokines of the transforming growth factor-β (TGF-β) family. They are negative feedback regulators and principally target the activated type I receptors as well as the activated Smad complexes, but with distinct specificities. Read More

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December 2020

Altered BMP-Smad4 signaling causes complete cleft palate by disturbing osteogenesis in palatal mesenchyme.

J Mol Histol 2021 Feb 7;52(1):45-61. Epub 2020 Nov 7.

Dalian Key Laboratory of Basic Research in Oral Medicine, School of Stomatology, Dalian Medical University, Dalian, 116044, China.

As the major receptor mediated BMP signaling in craniofacial development, Bmpr1a expression was detected in the anterior palatal shelves from E13.5 and the posterior palatal shelves from E14.5. Read More

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February 2021

R-spondins are BMP receptor antagonists in Xenopus early embryonic development.

Nat Commun 2020 11 4;11(1):5570. Epub 2020 Nov 4.

Division of Molecular Embryology, DKFZ-ZMBH Alliance, Deutsches Krebsforschungszentrum (DKFZ), 69120, Heidelberg, Germany.

BMP signaling plays key roles in development, stem cells, adult tissue homeostasis, and disease. How BMP receptors are extracellularly modulated and in which physiological context, is therefore of prime importance. R-spondins (RSPOs) are a small family of secreted proteins that co-activate WNT signaling and function as potent stem cell effectors and oncogenes. Read More

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November 2020

Implications of Splicing Alterations in the Onset and Phenotypic Variability of a Family with Subclinical Manifestation of Peutz-Jeghers Syndrome: Bioinformatic and Molecular Evidence.

Int J Mol Sci 2020 Nov 2;21(21). Epub 2020 Nov 2.

Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.

Peutz-Jeghers Syndrome (PJS) is an autosomal dominant pre-cancerous disorder caused in 80-90% of cases by germline mutations in the tumor suppressor gene . We performed a genetic test of the gene in two Italian young sisters suspected of PJS, since they showed pathognomonic café au lait spots in absence of other symptoms and familiarity. Sequencing of all exons of gene and other 8 genes, suggested to be involved in hamartomatous syndromes, (, , , , , , , ) led to the identification in both the probands of a novel germline silent mutation named c. Read More

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November 2020

Human osteoarthritis cartilage-derived stromal cells activate joint degeneration through TGF-beta lateral signaling.

FASEB J 2020 Dec 29;34(12):16552-16566. Epub 2020 Oct 29.

Department of Orthopedics, Alpert Medical School of Brown University/Rhode Island Hospital, Providence, RI, USA.

Human osteoarthritis cartilage contains chondrocytes (OAC) and mesenchymal stromal cells (OA-MSC). Here, we found that TGF-β had different effects on OA-MSC and OAC, and revealed its lateral signaling mechanism in OA. RNAseq analysis indicated that OA-MSC expressed the same level of Bone Morphogenetic Protein (BMP) Receptor-1A as OAC but only 1/12 of Transforming Growth Factor beta (TGF-β) Receptor-1. Read More

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December 2020

A new glioma grading model based on histopathology and Bone Morphogenetic Protein 2 mRNA expression.

Sci Rep 2020 10 28;10(1):18420. Epub 2020 Oct 28.

Beijing Neurosurgical Institute, Capital Medical University, Beijing, 100070, China.

Glioma, the most common form of primary malignant brain tumors, is graded based solely on histopathological appearance, which has led to prognostic discrepancies. This study aimed to establish a new glioma grading model by analyzing the expression of Bone Morphogenetic Protein 2 (BMP2) mRNA in patients with gliomas as well, named the Histopathological-BMP2 (HB) system. Clinical information was collected from 692 patients from the Chinese Glioma Genome Atlas database. Read More

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October 2020

Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing / Variant.

Cancer Prev Res (Phila) 2020 Oct 23. Epub 2020 Oct 23.

Hospital of the University of Pennsylvania and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.

Juvenile polyposis syndrome (JPS) is a clinically diagnosed hamartomatous polyposis syndrome that increases the risk of gastrointestinal cancer. Approximately 40%-50% of JPS is caused by a germline disease-causing variant (DCV) in the or genes. The aim of this study was to characterize the phenotype of DCV-negative JPS and compare it with DCV-positive JPS. Read More

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October 2020

National recommendations of the French Genetics and Cancer Group - Unicancer on the modalities of multi-genes panel analyses in hereditary predispositions to tumors of the digestive tract.

Eur J Med Genet 2020 Dec 8;63(12):104080. Epub 2020 Oct 8.

Institut Paoli-Calmettes, Department of Clinical Cancer Genetics, Aix Marseille Univ, INSERM, IRD, SESSTIM, Marseille, France.

In case of suspected hereditary predisposition to digestive cancers, next-generation sequencing can analyze simultaneously several genes associated with an increased risk of developing these tumors. Thus, "Gastro Intestinal" (GI) gene panels are commonly used in French molecular genetic laboratories. Lack of international recommendations led to disparities in the composition of these panels and in the management of patients. Read More

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December 2020

Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report.

BMC Med Genet 2020 10 8;21(1):196. Epub 2020 Oct 8.

Department of Medical Oncology, Zhongshan Hospital, Fudan University, 180 Fenglin Road, Shanghai, 200032, China.

Background: Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder characterized by the development of multiple distinct juvenile polyps in the gastrointestinal tract with an increased risk of colorectal cancer. Germline mutations in two genes, SMAD4 and BMPR1A, have been identified to cause JPS.

Case Presentation: Here, we report a germline heterozygous missense variant (c. Read More

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October 2020

Aberrant BMP2 Signaling in Patients Diagnosed with Osteoporosis.

Int J Mol Sci 2020 Sep 21;21(18). Epub 2020 Sep 21.

Department of Biological Sciences, University of Delaware, Newark, DE 19716, USA.

The most common bone disease in humans is osteoporosis (OP). Current therapeutics targeting OP have several negative side effects. Bone morphogenetic protein 2 (BMP2) is a potent growth factor that is known to activate both osteoblasts and osteoclasts. Read More

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September 2020

Transcriptomic profile of semitendinosus muscle of bulls of different breed and performance.

J Appl Genet 2020 Dec 26;61(4):581-592. Epub 2020 Aug 26.

Department of Physiological Sciences, Institute of Veterinary Medicine, Warsaw University of Life Sciences-SGGW, Nowoursynowska 159, 02-776, Warsaw, Poland.

The aim of the study was to compare the transcriptomic profiles of fully differentiated skeletal muscle derived from bulls belonging to different breeds of varying performance. Microarray analyses were performed to determine the differences in the expression profiles of genes between semitendinosus muscles of 15-month-old beef-breed bulls (Limousin-LIM and Hereford-HER) and dairy-breed bulls (Holstein Friesian-HF). These analyses allowed for the identification of those genes the expression of which is similar and characteristic of fully differentiated muscle in beef breeds, but differs in skeletal muscle of a typical dairy breed. Read More

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December 2020

BMP6 Regulates Corneal Epithelial Cell Stratification by Coordinating Their Proliferation and Differentiation and Is Upregulated in Pterygium.

Invest Ophthalmol Vis Sci 2020 08;61(10):46

Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, United States.

Purpose: Proper balance between cell proliferation and differentiation is essential for corneal epithelial (CE) stratification and homeostasis. Although bone morphogenetic protein-6 (BMP6) is known to be expressed in the CE for over 25 years, its function in this tissue remains unknown. Here, we test the hypothesis that BMP6 promotes CE cell stratification and homeostasis by regulating their proliferation and differentiation. Read More

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Identification of MicroRNA-Related Tumorigenesis Variants and Genes in the Cancer Genome Atlas (TCGA) Data.

Genes (Basel) 2020 08 19;11(9). Epub 2020 Aug 19.

USF Genomics & College of Public Health, University of South Florida, Tampa, FL 33612, USA.

MicroRNAs (miRNAs) are a class of small non-coding RNA that can down-regulate their targets by selectively binding to the 3' untranslated region (3'UTR) of most messenger RNAs (mRNAs) in the human genome. Single nucleotide variants (SNVs) located in miRNA target sites (MTS) can disrupt the binding of targeting miRNAs. Anti-correlated miRNA-mRNA pairs between normal and tumor tissues obtained from The Cancer Genome Atlas (TCGA) can reveal important information behind these SNVs on MTS and their associated oncogenesis. Read More

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Serum miR-503 is a Candidate Biomarker for Differentiating Metabolic Healthy Obesity from Metabolic Unhealthy Obesity.

Diabetes Metab Syndr Obes 2020 27;13:2667-2676. Epub 2020 Jul 27.

National Clinical Research Center for Metabolic Diseases, Hunan Provincial Key Laboratory for Metabolic Bone Diseases, Department of Metabolism and Endocrinology, The Second Xiangya Hospital of Central South University, Changsha 410011, Hunan, People's Republic of China.

Purpose: Overweight and obesity are associated with metabolic diseases. However, a subgroup of the overweight/obese population does not present metabolic abnormalities. Hence, there is an urgent need to identify biomarkers that can distinguish different obesity phenotypes and metabolic status. Read More

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Cancer within the family tree: risks, diagnosis and treatment of juvenile polyposis syndrome.

BMJ Case Rep 2020 Aug 18;13(8). Epub 2020 Aug 18.

Gastroenterology, Tripler Army Medical Center, Honolulu, Hawaii, USA.

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BMPR1A is necessary for chondrogenesis and osteogenesis, whereas BMPR1B prevents hypertrophic differentiation.

J Cell Sci 2020 08 21;133(16). Epub 2020 Aug 21.

Osteoarthritis Research, Merck KGaA, 64293 Darmstadt, Germany

BMP2 stimulates bone formation and signals preferably through BMP receptor (BMPR) 1A, whereas GDF5 is a cartilage inducer and signals preferably through BMPR1B. Consequently, BMPR1A and BMPR1B are believed to be involved in bone and cartilage formation, respectively. However, their function is not yet fully clarified. Read More

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