Cargando…

Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process

BACKGROUND: Diaphanospondylodysostosis (DSD) is a rare congenital, lethal skeletal disorder caused by recessively inherited mutations in the BMPER gene, which encodes the bone morphogenetic protein‐binding endothelial cell precursor‐derived regulator. The most prominent features of DSD are missing o...

Descripción completa

Detalles Bibliográficos
Autores principales:	Braun, Frederik, Gangfuß, Andrea, Stöbe, Petra, Haack, Tobias B., Schweiger, Bernd, Roos, Andreas, Schara, Ulrike
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683618/ https://www.ncbi.nlm.nih.gov/pubmed/34288564 http://dx.doi.org/10.1002/mgg3.1767

Ejemplares similares

Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report
por: Hofstaetter, Cornelia, et al.
Publicado: (2018)

Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience
por: Gangfuss, Andrea, et al.
Publicado: (2021)

New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1
por: Kölbel, Heike, et al.
Publicado: (2022)

Bmper sticker sends Bmp to lysosomes
por: Short, Ben
Publicado: (2009)

Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis
por: Kuchinskaya, Ekaterina, et al.
Publicado: (2016)

BMPER Promotes Epithelial-Mesenchymal Transition in the Developing Cardiac Cushions
por: Dyer, Laura, et al.
Publicado: (2015)

BMPER Improves Vascular Remodeling and the Contractile Vascular SMC Phenotype
por: Pankratz, Franziska, et al.
Publicado: (2023)

Correction: BMPER Promotes Epithelial-Mesenchymal Transition in the Developing Cardiac Cushions
por: Dyer, Laura, et al.
Publicado: (2018)

Diagnostic and Prognostic Values of BMPER in Patients with Urosepsis following Ureteroscopic Lithotripsy
por: Xu, Chang Geng, et al.
Publicado: (2019)

Internal cleavage and synergy with twisted gastrulation enhance BMP inhibition by BMPER
por: Lockhart-Cairns, Michael P., et al.
Publicado: (2019)

BMPER Ameliorates Renal Fibrosis by Inhibiting Tubular Dedifferentiation and Fibroblast Activation
por: Xie, Ting, et al.
Publicado: (2021)

BMPER is a marker of adipose progenitors and adipocytes and a positive modulator of adipogenesis
por: Garritson, Jacob D., et al.
Publicado: (2023)

Methylation-mediated BMPER expression in fibroblast activation in vitro and lung fibrosis in mice in vivo
por: Huan, Caijuan, et al.
Publicado: (2015)

A molecular roadmap of the AGM region reveals BMPER as a novel regulator of HSC maturation
por: McGarvey, Alison C., et al.
Publicado: (2017)

Overexpression of BMPER in Ovarian Cancer and the Mechanism by which It Promotes Malignant Biological Behavior in Tumor Cells
por: Xi, Yong, et al.
Publicado: (2020)

Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of Novel Variants
por: Unger, Andreas, et al.
Publicado: (2023)

A concentration-dependent endocytic trap and sink mechanism converts Bmper from an activator to an inhibitor of Bmp signaling
por: Kelley, Rusty, et al.
Publicado: (2009)

A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function
por: Hentschel, Andreas, et al.
Publicado: (2023)

Correction: A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function
por: Hentschel, Andreas, et al.
Publicado: (2023)

Arteriovenous specification: BMPER and TWSG1 determine endothelial cell fate via activation of synergistic BMP and Notch signaling
por: Osmanagic‐Myers, Selma, et al.
Publicado: (2018)

Successfully Managed Respiratory Insufficiency in a Patient with a Novel Pathogenic Variant of the BMPER Gene: A Case Report
por: Park, Ho Eun, et al.
Publicado: (2022)

BMPER alleviates ischemic brain injury by protecting neurons and inhibiting neuroinflammation via Smad3‐Akt‐Nrf2 pathway
por: Ding, Peng, et al.
Publicado: (2021)

Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3
por: Della Marina, Adela, et al.
Publicado: (2021)

Clinical Course, Myopathology and Challenge of Therapeutic Intervention in Pediatric Patients with Autoimmune-Mediated Necrotizing Myopathy
por: Della Marina, Adela, et al.
Publicado: (2021)

Effects of BMPER, CXCL10, and HOXA9 on Neovascularization During Early-Growth Stage of Primary High-Grade Glioma and Their Corresponding MRI Biomarkers
por: Xue, Wei, et al.
Publicado: (2020)

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies
por: Chacon‐Camacho, Oscar F., et al.
Publicado: (2019)

Downregulation of Hsa_circ_0000735 Inhibits the Proliferation, Migration, Invasion, and Glycolysis in Non-small-cell Lung Cancer by Targeting miR-940/BMPER Axis
por: Huang, Weizhe, et al.
Publicado: (2020)

Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS
por: Braun, Frederik, et al.
Publicado: (2021)

Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients
por: Kölbel, Heike, et al.
Publicado: (2019)

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history
por: Giunta, Cecilia, et al.
Publicado: (2018)

Further evidence for POMK as candidate gene for WWS with meningoencephalocele
por: Paul, Luisa, et al.
Publicado: (2020)

LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum
por: Neuhofer, Christiane M., et al.
Publicado: (2020)

Expansion of the mutation spectrum and phenotype of USP7-related neurodevelopmental disorder
por: Zheng, Hong, et al.
Publicado: (2022)

Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum
por: Schmidt, Julia, et al.
Publicado: (2022)

Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study
por: Della Marina, Adela, et al.
Publicado: (2020)

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa
por: Vogt, Guido, et al.
Publicado: (2021)

Description and Analysis of the First Spectrum of Iodine
por: Kiess, C. C., et al.
Publicado: (1959)

Uniform Contraction-Expansion Description of Relative Centromere and Telomere Motion
por: Kepten, Eldad, et al.
Publicado: (2015)

Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases
por: Hentschel, Andreas, et al.
Publicado: (2021)

An IBM description of coexistence in the lead isotopes
por: Thiamova, G, et al.
Publicado: (1999)

Cannot write session to /tmp/vufind_sessions/sess_hro41mi9na5c062tne0m40e6sd