Cargando…

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia. We identified an X-linked recessive form of OI caused by defects in MBTPS2, which encodes site-2 metalloprotease (S2P). MBTPS2 missense mutations in two independent kindreds with moderate/severe OI cause substitutions at highly conse...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lindert, Uschi, Cabral, Wayne A., Ausavarat, Surasawadee, Tongkobpetch, Siraprapa, Ludin, Katja, Barnes, Aileen M., Yeetong, Patra, Weis, Maryann, Krabichler, Birgit, Srichomthong, Chalurmpon, Makareeva, Elena N., Janecke, Andreas R., Leikin, Sergey, Röthlisberger, Benno, Rohrbach, Marianne, Kennerknecht, Ingo, Eyre, David R., Suphapeetiporn, Kanya, Giunta, Cecilia, Marini, Joan C., Shotelersuk, Vorasuk
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4935805/ https://www.ncbi.nlm.nih.gov/pubmed/27380894 http://dx.doi.org/10.1038/ncomms11920

Ejemplares similares

A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I
por: Prommajan, Korrakot, et al.
Publicado: (2011)

A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2
por: Hemwong, Nalinee, et al.
Publicado: (2019)

PTPRF is disrupted in a patient with syndromic amastia
por: Ausavarat, Surasawadee, et al.
Publicado: (2011)

A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing
por: Porntaveetus, Thantrira, et al.
Publicado: (2015)

Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report
por: Sangsin, Apiruk, et al.
Publicado: (2016)

A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents
por: Tongkobpetch, Siraprapa, et al.
Publicado: (2017)

Whole Genome and Exome Sequencing of Monozygotic Twins with Trisomy 21, Discordant for a Congenital Heart Defect and Epilepsy
por: Chaiyasap, Pongsathorn, et al.
Publicado: (2014)

The most 5′ truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report
por: Kuptanon, Chulaluck, et al.
Publicado: (2018)

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand
por: Chaiyasap, Pongsathorn, et al.
Publicado: (2017)

Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report
por: Sangsin, Apiruk, et al.
Publicado: (2017)

A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases
por: Sinthuwiwat, Thivaratana, et al.
Publicado: (2022)

Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita
por: Suthiworachai, Chanisara, et al.
Publicado: (2018)

Pathogenic variant detection rate by whole exome sequencing in Thai patients with biopsy-proven focal segmental glomerulosclerosis
por: Isaranuwatchai, Suramath, et al.
Publicado: (2023)

Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in ACBD6-Associated Syndrome: A Case Report
por: Yeetong, Patra, et al.
Publicado: (2022)

Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report
por: Charnwichai, Pattaranatcha, et al.
Publicado: (2016)

Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs
por: Porntaveetus, Thantrira, et al.
Publicado: (2018)

MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders
por: Caengprasath, Natarin, et al.
Publicado: (2021)

Carnitine palmitoyl transferase 1A deficiency in an adult with recurrent severe steato hepatitis aggravated by high pathologic or physiologic demands: A roller-coaster for internists
por: Phowthongkum, Prasit, et al.
Publicado: (2019)

Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype–Phenotype Correlation of POLG c.3286C>T Variant
por: Sriwattanapong, Kanokwan, et al.
Publicado: (2021)

Generation and characterization of HLA-universal platelets derived from induced pluripotent stem cells
por: Norbnop, Phatchara, et al.
Publicado: (2020)

Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta
por: Lim, Pei Jin, et al.
Publicado: (2021)

Age-Related Reference Intervals for Blood Amino Acids in Thai Pediatric Population Measured by Liquid Chromatography Tandem Mass Spectrometry
por: Uaariyapanichkul, Jaraspong, et al.
Publicado: (2018)

Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development
por: Konjikusic, Mia J., et al.
Publicado: (2018)

TIGIT Monoallelic Nonsense Variant in Patient with Severe COVID-19 Infection, Thailand
por: Sodsai, Pimpayao, et al.
Publicado: (2022)

Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum
por: Summa, Sarinya, et al.
Publicado: (2023)

Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants
por: Chokvithaya, Suphalak, et al.
Publicado: (2023)

Procollagen Triple Helix Assembly: An Unconventional Chaperone-Assisted Folding Paradigm
por: Makareeva, Elena, et al.
Publicado: (2007)

Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
por: Lim, Pei Jin, et al.
Publicado: (2023)

Whole exome sequencing for diagnosis of hereditary thrombocytopenia
por: Mekchay, Ponthip, et al.
Publicado: (2020)

Bone Formation in 2D Culture of Primary Cells
por: Mertz, Edward L., et al.
Publicado: (2022)

Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers–Danlos Syndrome
por: Lim, Pei Jin, et al.
Publicado: (2019)

A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome
por: Jiang, Yanyun, et al.
Publicado: (2019)

ER, Mitochondria, and ISR Regulation by mt‐HSP70 and ATF5 upon Procollagen Misfolding in Osteoblasts
por: Gorrell, Laura, et al.
Publicado: (2022)

Circulating thyrotropin receptor messenger ribonucleic acid is not an effective marker in the follow-up of differentiated thyroid carcinoma
por: Ausavarat, Surasawadee, et al.
Publicado: (2015)

Hypopigmentation and Maternal-Zygotic Embryonic Lethality Caused by a Hypomorphic Mbtps1 Mutation in Mice
por: Rutschmann, Sophie, et al.
Publicado: (2012)

An Intronic MBTPS2 Variant Results in a Splicing Defect in Horses with Brindle Coat Texture
por: Murgiano, Leonardo, et al.
Publicado: (2016)

A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
por: Shin, Jun-Oh, et al.
Publicado: (2022)

MBTPS2 acts as a regulator of lipogenesis and cholesterol synthesis through SREBP signalling in prostate cancer
por: Tibbo, Amy J., et al.
Publicado: (2023)

Genetics and genomics in Thailand: challenges and opportunities
por: Shotelersuk, Vorasuk, et al.
Publicado: (2014)

Human asparagine synthetase associates with the mitotic spindle
por: Noree, Chalongrat, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_duio2258e041hd14emhimjba69