Cargando…

PLS3 Mutations Cause Severe Age and Sex-Related Spinal Pathology

Objective: Mutations in the X-chromosomal PLS3-gene, encoding Plastin 3, lead to severe early-onset osteoporosis, suggesting a major role for PLS3 in bone metabolism. However, the consequences of abnormal PLS3 function in bone and other tissues remain incompletely characterized. This study evaluated...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mäkitie, Riikka E., Niinimäki, Tuukka, Suo-Palosaari, Maria, Kämpe, Anders, Costantini, Alice, Toiviainen-Salo, Sanna, Niinimäki, Jaakko, Mäkitie, Outi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7324541/ https://www.ncbi.nlm.nih.gov/pubmed/32655496 http://dx.doi.org/10.3389/fendo.2020.00393

Ejemplares similares

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

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

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)

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

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

SGMS2 in primary osteoporosis with facial nerve palsy
por: Pihlström, Sandra, et al.
Publicado: (2023)

Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study
por: Vakkilainen, Svetlana, et al.
Publicado: (2021)

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

The standing fixed flexion view detects narrowing of the joint space better than the standing extended view in patients with moderate osteoarthritis of the knee
por: Niinimäki, Tuukka, et al.
Publicado: (2010)

Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort
por: Rajala, Katri, et al.
Publicado: (2022)

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

Retention of metals in periprosthetic tissues of patients with metal-on-metal total hip arthroplasty is reflected in the synovial fluid to blood cobalt transfer ratio in the presence of a pseudotumour
por: Nousiainen, Tomi, et al.
Publicado: (2020)

Late vertebral side effects in long-term survivors of irradiated childhood brain tumor
por: Jussila, Miro-Pekka, et al.
Publicado: (2018)

Medulloblastoma, macrocephaly, and a pathogenic germline PTEN variant: Cause or coincidence?
por: Tolonen, Jussi‐Pekka, et al.
Publicado: (2020)

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)

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

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

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)

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

Letrozole Monotherapy in Pre- and Early-Pubertal Boys Does Not Increase Adult Height
por: Varimo, Tero, et al.
Publicado: (2019)

New gene discoveries in skeletal diseases with short stature
por: Costantini, Alice, et al.
Publicado: (2021)

Preoperative measurements on MRI in Chiari 1 patients fail to predict outcome after decompressive surgery
por: Jussila, Miro-Pekka, et al.
Publicado: (2021)

Early disc degeneration in radiotherapy-treated childhood brain tumor survivors
por: Grahn, Petra, et al.
Publicado: (2023)

SAT-400 Pregnancy Outcome in Women with Hypoparathyroidism:Aswedishpopulation-Based Cohort Study
por: Bjornsdottir, Sigridur, et al.
Publicado: (2020)

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)

The intricate mechanism of PLS3 in bone homeostasis and disease
por: Zhong, Wenchao, et al.
Publicado: (2023)

‘Metaphyseal dysplasia without hypotrichosis’ can present with late-onset extraskeletal manifestations
por: Vakkilainen, Svetlana, et al.
Publicado: (2020)

Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia
por: Costantini, Alice, et al.
Publicado: (2021)

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

Comparison of ultrasonographic, radiographic and intra-operative findings in severe hip osteoarthritis
por: Nevalainen, Mika T., et al.
Publicado: (2020)

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

Gravidity, parity and knee breadth at midlife: a population-based cohort study
por: Junno, Juho-Antti, et al.
Publicado: (2022)

A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders
por: Formosa, Melissa M., et al.
Publicado: (2021)

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

DNA polymerase gamma variants and hepatotoxicity during maintenance therapy of childhood acute lymphoblastic leukemia: is there a causal relationship?
por: Harju, Tekla, et al.
Publicado: (2023)

Lumbosacral transitional vertebrae are associated with lumbar degeneration: retrospective evaluation of 3855 consecutive abdominal CT scans
por: Hanhivaara, Jaakko, et al.
Publicado: (2020)

Retrograde intramedullary nailing of the radius in children: A pilot magnetic resonance imaging study of soft-tissue findings
por: Perhomaa, Marja, et al.
Publicado: (2022)

Bone Density and Texture from Minimally Post-Processed Knee Radiographs in Subjects with Knee Osteoarthritis
por: Hirvasniemi, Jukka, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_hfrhan12tn1tc1qeq8mvthus1o