Cargando…

SGMS2 in primary osteoporosis with facial nerve palsy

Pathogenic heterozygous variants in SGMS2 cause a rare monogenic form of osteoporosis known as calvarial doughnut lesions with bone fragility (CDL). The clinical presentations of SGMS2-related bone pathology range from childhood-onset osteoporosis with low bone mineral density and sclerotic doughnut...

Descripción completa

Detalles Bibliográficos
Autores principales:	Pihlström, Sandra, Richardt, Sampo, Määttä, Kirsi, Pekkinen, Minna, Olkkonen, Vesa M., Mäkitie, Outi, Mäkitie, Riikka E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10598846/ https://www.ncbi.nlm.nih.gov/pubmed/37886644 http://dx.doi.org/10.3389/fendo.2023.1224318

Ejemplares similares

Abnormal Bone Tissue Organization and Osteocyte Lacunocanalicular Network in Early‐Onset Osteoporosis Due to SGMS2 Mutations
por: Mäkitie, Riikka E., et al.
Publicado: (2021)

Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2
por: Pekkinen, Minna, et al.
Publicado: (2019)

A multi-omics study to characterize the transdifferentiation of human dermal fibroblasts to osteoblast-like cells
por: Pihlström, Sandra, et al.
Publicado: (2022)

New Insights Into Monogenic Causes of Osteoporosis
por: Mäkitie, Riikka E., et al.
Publicado: (2019)

Rare Variants in Genes Linked to Appetite Control and Hypothalamic Development in Early-Onset Severe Obesity
por: Loid, Petra, et al.
Publicado: (2020)

Lipocalin-2 is associated with FGF23 in WNT1 and PLS3 osteoporosis
por: Loid, Petra, et al.
Publicado: (2022)

Severe Phenotype of APECED (APS1) Increases Risk for Structural Bone Alterations
por: Laakso, Saila, et al.
Publicado: (2020)

A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant
por: Mäkitie, Riikka E., et al.
Publicado: (2022)

Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility
por: Costantini, Alice, et al.
Publicado: (2018)

Gonadal Failure Is Common in Long-Term Survivors of Childhood High-Risk Neuroblastoma Treated With High-Dose Chemotherapy and Autologous Stem Cell Rescue
por: Utriainen, Pauliina, et al.
Publicado: (2019)

Genetic variation in WNT16 and its association with bone mineral density, fractures and osteoporosis in children with bone fragility()
por: Mäkitie, R.E., et al.
Publicado: (2022)

PLS3 Mutations Cause Severe Age and Sex-Related Spinal Pathology
por: Mäkitie, Riikka E., et al.
Publicado: (2020)

Vitamin D Is a Major Determinant of Bone Mineral Density at School Age
por: Pekkinen, Minna, et al.
Publicado: (2012)

Early-Onset Osteoporosis
por: Mäkitie, Outi, et al.
Publicado: (2021)

Craniofacial and Craniocervical Features in Cartilage-Hair Hypoplasia: A Radiological Study of 17 Patients and 34 Controls
por: Arponen, Heidi, et al.
Publicado: (2021)

A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report
por: Mäkitie, R. E., et al.
Publicado: (2021)

Recurrent Hypokalemia and Adrenal Steroids in Patients With APECED
por: Borchers, Joonatan, et al.
Publicado: (2022)

A preliminary transcriptome analysis suggests a transitory effect of vitamin D on mitochondrial function in obese young Finnish subjects
por: Einarsdottir, Elisabet, et al.
Publicado: (2019)

GNAS, PDE4D, and PRKAR1A Mutations and GNAS Methylation Changes Are Not a Common Cause of Isolated Early-Onset Severe Obesity Among Finnish Children
por: Loid, Petra, et al.
Publicado: (2020)

Targeted Exome Sequencing of Genes Involved in Rare CNVs in Early-Onset Severe Obesity
por: Loid, Petra, et al.
Publicado: (2022)

Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1
por: Bruserud, Øyvind, et al.
Publicado: (2018)

Early‐Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen
por: Costantini, Alice, et al.
Publicado: (2022)

Facial nerve electrodiagnostics for patients with facial palsy: a clinical practice guideline
por: Guntinas-Lichius, Orlando, et al.
Publicado: (2020)

PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants
por: Kämpe, A. J., et al.
Publicado: (2017)

Polyostotic Fibrous Dysplasia With and Without McCune–Albright Syndrome—Clinical Features in a Nordic Pediatric Cohort
por: Utriainen, Pauliina, et al.
Publicado: (2018)

Endocrine Disorders and Genital Infections Impair Gynecological Health in APECED (APS-1)
por: Saari, Viivi, et al.
Publicado: (2021)

Vitamin D Binding Protein Genotype Is Associated with Serum 25-Hydroxyvitamin D and PTH Concentrations, as Well as Bone Health in Children and Adolescents in Finland
por: Pekkinen, Minna, et al.
Publicado: (2014)

Variation in the fibroblast growth factor 23 (FGF23) gene associates with serum FGF23 and bone strength in infants
por: Enlund-Cerullo, Maria, et al.
Publicado: (2023)

A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia
por: Vakkilainen, Svetlana, et al.
Publicado: (2018)

Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland
por: Viljakainen, Heli, et al.
Publicado: (2015)

Genetic variation in GC and CYP2R1 affects 25-hydroxyvitamin D concentration and skeletal parameters: A genome-wide association study in 24-month-old Finnish children
por: Kämpe, Anders, et al.
Publicado: (2019)

Phosphate Concentrations and Modifying Factors in Healthy Children From 12 to 24 Months of Age
por: Koljonen, Laura, et al.
Publicado: (2021)

Exome Sequencing Reveals a Phenotype Modifying Variant in ZNF528 in Primary Osteoporosis With a COL1A2 Deletion
por: Skarp, Sini, et al.
Publicado: (2020)

Traumatic Facial Nerve Palsy
por: Derksen, Brenna, et al.
Publicado: (2017)

Management of peripheral facial nerve palsy
por: Finsterer, Josef
Publicado: (2008)

Legionnaires' Disease with Facial Nerve Palsy
por: Basani, Shailesh R., et al.
Publicado: (2011)

Incidence of Facial Nerve Palsy in Pregnancy
por: Bose, Sushrut, et al.
Publicado: (2022)

Total Transcanal Endoscopic Facial Nerve Decompression for Traumatic Facial Nerve Palsy
por: Kahinga, Aveline Aloyce, et al.
Publicado: (2018)

Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity
por: Korvala, Johanna, et al.
Publicado: (2012)

An ARHGAP25 variant links aberrant Rac1 function to early‐onset skeletal fragility
por: Mäkitie, Riikka E., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_22kut32l0bk1u5c5vter38106j