Cargando…

Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

Detalles Bibliográficos
Autores principales:	Elouej, Sahar, Harhouri, Karim, Mao, Morgane Le, Baujat, Genevieve, Nampoothiri, Sheela, Kayserili, Hϋlya, Menabawy, Nihal Al, Selim, Laila, Paneque, Arianne Llamos, Kubisch, Christian, Lessel, Davor, Rubinsztajn, Robert, Charar, Chayki, Bartoli, Catherine, Airault, Coraline, Deleuze, Jean-François, Rötig, Agnes, Bauer, Peter, Pereira, Catarina, Loh, Abigail, Escande-Beillard, Nathalie, Muchir, Antoine, Martino, Lisa, Gruenbaum, Yosef, Lee, Song-Hua, Manivet, Philippe, Lenaers, Guy, Reversade, Bruno, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2020
Materias:	Author Correction
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7572408/ https://www.ncbi.nlm.nih.gov/pubmed/33077719 http://dx.doi.org/10.1038/s41467-020-19290-y

Ejemplares similares

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
por: Elouej, Sahar, et al.
Publicado: (2020)

Measuring nucleus mechanics within a living multicellular organism: Physical decoupling and attenuated recovery rate are physiological protective mechanisms of the cell nucleus under high mechanical load
por: Zuela-Sopilniak, Noam, et al.
Publicado: (2020)

The Response to High CO(2) Levels Requires the Neuropeptide Secretion Component HID-1 to Promote Pumping Inhibition
por: Sharabi, Kfir, et al.
Publicado: (2014)

Lamin regulates the dietary restriction response via the mTOR pathway in Caenorhabditis elegans
por: Charar, Chayki, et al.
Publicado: (2021)

Hutchinson-Gilford Progeria Versus Mandibuloacral Dysplasia
por: Mehrez, Mennat Allah I, et al.
Publicado: (2014)

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy
por: Bai, Shaochun, et al.
Publicado: (2014)

Transcatheter Aortic Valve Replacement in a Young Patient With Mandibuloacral Dysplasia
por: Stefanescu Schmidt, Ada C., et al.
Publicado: (2021)

Altered chromatin organization and SUN2 localization in mandibuloacral dysplasia are rescued by drug treatment
por: Camozzi, Daria, et al.
Publicado: (2012)

Two Decades after Mandibuloacral Dysplasia Discovery: Additional Cases and Comprehensive View of Disease Characteristics
por: Jéru, Isabelle, et al.
Publicado: (2021)

Rapamycin treatment of Mandibuloacral Dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics
por: Cenni, Vittoria, et al.
Publicado: (2014)

Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution
por: Capanni, Cristina, et al.
Publicado: (2012)

Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China
por: Luo, Di-Qing, et al.
Publicado: (2014)

An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome
por: Harhouri, Karim, et al.
Publicado: (2018)

A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14)
por: Romero, V. I., et al.
Publicado: (2020)

Experiences of the Molecular Diagnosis of Fragile X Syndrome in Ecuador
por: Pozo-Palacios, Juan, et al.
Publicado: (2021)

RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis
por: Wong, Samantha, et al.
Publicado: (2023)

MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies
por: Frankel, Diane, et al.
Publicado: (2018)

Mandibuloacral dysplasia in a young Vietnamese girl caused by homozygous missense variant c.1579C>T in the LMNA gene with progeria and severe skin lesions
por: Doanh, Le Huu, et al.
Publicado: (2021)

MG132‐induced progerin clearance is mediated by autophagy activation and splicing regulation
por: Harhouri, Karim, et al.
Publicado: (2017)

Hutchinson–Gilford Syndrome (Progeria) with Heterozygous Mutation in the LMNA Gene-ENST00000368300.9 Presenting with Mandibuloacral Dysplasia and Acrogeroid Features—Overlap of Premature Aging Syndromes
por: Muralidharan, Sniya, et al.
Publicado: (2022)

Fatal Myelotoxicity Following Palliative Chemotherapy With Cisplatin and Gemcitabine in a Patient With Stage IV Cholangiocarcinoma Linked to Post Mortem Diagnosis of Fanconi Anemia
por: Engel, Nils W., et al.
Publicado: (2019)

Antisense-Based Progerin Downregulation in HGPS-Like Patients’ Cells
por: Harhouri, Karim, et al.
Publicado: (2016)

Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines
por: Hitzert, M. M., et al.
Publicado: (2019)

Cutaneous and metabolic defects associated with nuclear abnormalities in a transgenic mouse model expressing R527H lamin A mutation causing mandibuloacral dysplasia type A (MADA) syndrome
por: D’Apice, Maria Rosaria, et al.
Publicado: (2020)

MG132 Induces Progerin Clearance and Improves Disease Phenotypes in HGPS-like Patients’ Cells
por: Harhouri, Karim, et al.
Publicado: (2022)

Efficient progerin clearance through autophagy induction and SRSF-1 downregulation in Hutchinson-Gilford Progeria Syndrome
por: Harhouri, Karim
Publicado: (2015)

Omics profiling identifies the regulatory functions of the MAPK/ERK pathway in nephron progenitor metabolism
por: Kwon, Hyuk Nam, et al.
Publicado: (2022)

Investigation of pathomechanisms of ventricular arrhythmias in cardiac laminopathies
por: Muchir, Antoine
Publicado: (2015)

Tris(pentafluorophenyl)borane-catalyzed Hydride Transfer Reactions in Polysiloxane Chemistry—Piers–Rubinsztajn Reaction and Related Processes
por: Rubinsztajn, Slawomir, et al.
Publicado: (2023)

Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies
por: Lessel, Ivana, et al.
Publicado: (2020)

An Omics View of Emery–Dreifuss Muscular Dystrophy
por: Vignier, Nicolas, et al.
Publicado: (2020)

Need for NAD(+): Focus on Striated Muscle Laminopathies
por: Cardoso, Déborah, et al.
Publicado: (2020)

Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype
por: Chikhaoui, Asma, et al.
Publicado: (2019)

Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype
por: Nabouli, Imen, et al.
Publicado: (2021)

miR-376a-3p and miR-376b-3p overexpression in Hutchinson-Gilford progeria fibroblasts inhibits cell proliferation and induces premature senescence
por: Frankel, Diane, et al.
Publicado: (2022)

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome
por: Ghedira, Nehla, et al.
Publicado: (2018)

CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures
por: Sargolzaeiaval, Forough, et al.
Publicado: (2018)

Loss of Iroquois homeobox transcription factors 3 and 5 in osteoblasts disrupts cranial mineralization
por: Cain, Corey J., et al.
Publicado: (2016)

FANCA Gene Mutations in North African Fanconi Anemia Patients
por: Ben Haj Ali, Abir, et al.
Publicado: (2021)

Ethnic-specific WRN mutations in South Asian Werner syndrome patients: potential founder effect in patients with Indian or Pakistani ancestry
por: Saha, Bidisha, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_6hq8l97e0u7d51qgtsbq93ps38