3,460 results match your criteria type lamin


Subcutaneous Sacro Coccygeal Myxopapillary Ependymoma: A Case Report and a Comprehensive Review of the Literature Reappraising Its Current Diagnostic Approach and Management.

Cureus 2021 May 10;13(5):e14931. Epub 2021 May 10.

Radiation Oncology, Civil hospital Shillong, Shillong, IND.

Sacrococcygeal myxopapillary ependymoma (MPE) is an uncommon type I glial tumor detected most frequently in the lumbosacral area of adolescents and children. It is usually presented as an intradural ependymal tumor that originates from the filum terminale and other locations within the ventricular system along the craniospinal axis. In rare cases, however, MPE may develop as a primary subcutaneous tumor in the sacrococcygeal area. Read More

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The nucleoplasmic interactions among Lamin A/C-pRB-LAP2α-E2F1 are modulated by dexamethasone.

Sci Rep 2021 May 12;11(1):10099. Epub 2021 May 12.

Department of Biomolecular Sciences, University of Urbino "Carlo Bo", Via A. Saffi 2, 61029, Urbino, Italy.

Ataxia telangiectasia (AT) is a rare genetic neurodegenerative disease. To date, there is no available cure for the illness, but the use of glucocorticoids has been shown to alleviate the neurological symptoms associated with AT. While studying the effects of dexamethasone (dex) in AT fibroblasts, by chance we observed that the nucleoplasmic Lamin A/C was affected by the drug. Read More

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Case Report: An Atypical Form of Familial Partial Lipodystrophy Type 2 Due to Mutation in the Rod Domain of Lamin A/C.

Front Endocrinol (Lausanne) 2021 19;12:675096. Epub 2021 Apr 19.

Division of Endocrinology and Diabetes Prevention and Care, Department of Medical and Surgical Sciences (DIMEC), Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.

Purpose: Familial partial lipodystrophy type 2 (FPLD2) patients generally develop a wide variety of severe metabolic complications. However, they are not usually affected by primary cardiomyopathy and conduction system disturbances, although a few cases of FPLD2 and cardiomyopathy have been reported in the literature. These were all due to amino-terminal heterozygous lamin A/C mutations, which are considered as new forms of overlapping syndromes. Read More

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Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins.

Int J Mol Sci 2021 Apr 20;22(8). Epub 2021 Apr 20.

CNR Institute of Molecular Genetics "Luigi Luca Cavalli-Sforza", Unit of Bologna, 40136 Bologna, Italy.

Intermediate filaments are major components of the cytoskeleton. Desmin and synemin, cytoplasmic intermediate filament proteins and A-type lamins, nuclear intermediate filament proteins, play key roles in skeletal and cardiac muscle. Desmin, encoded by the gene (OMIM *125660) and A-type lamins by the gene (OMIM *150330), have been involved in striated muscle disorders. Read More

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Variable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA Variant.

J Clin Med 2021 Apr 3;10(7). Epub 2021 Apr 3.

UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain.

Type 2 familial partial lipodystrophy, or Dunnigan disease, is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution. This rare condition results from variants principally affecting exons 8 and 11 of the gene. In this study, five FPLD2-diagnosed patients carrying the c. Read More

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Base Editing in Progeria.

N Engl J Med 2021 Apr;384(14):1364-1366

From the Center for Genome Engineering, Institute for Basic Science, Daejon, South Korea (J.-S.K.); and the Department of Biosciences and Nutrition, Center for Innovative Medicine, Karolinska Institutet, Huddinge, Sweden (M.E.).

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Muscle Enriched Lamin Interacting Protein () Binds Chromatin and Is Required for Myoblast Differentiation.

Cells 2021 Mar 10;10(3). Epub 2021 Mar 10.

Department of Chemistry and Earth Sciences, College of Arts and Sciences, Qatar University, Doha 999043, Qatar.

Muscle-enriched A-type lamin-interacting protein () is a recently discovered Amniota gene that encodes proteins of unknown biological function. Here we report 's direct interaction with chromatin, and it may function as a transcriptional co-factor. Chromatin immunoprecipitations with microarray analysis demonstrated a propensity for to associate with genomic regions in close proximity to genes that control tissue-specific differentiation. Read More

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A novel missense variant in the LMNB2 gene causes progressive myoclonus epilepsy.

Acta Neurol Belg 2021 Mar 30. Epub 2021 Mar 30.

Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.

Progressive myoclonus epilepsies (PMEs) are a group of disorders embracing myoclonus, seizures, and neurological dysfunctions. Because of the genetic and clinical heterogeneity, a large proportion of PMEs cases have remained molecularly undiagnosed. The present study aimed to determine the underlying genetic factors that contribute to the PME phenotype in an Iranian female patient. Read More

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The LINC complex transmits integrin-dependent tension to the nuclear lamina and represses epidermal differentiation.

Elife 2021 03 29;10. Epub 2021 Mar 29.

Department of Cell Biology, Yale School of Medicine, New Haven, United States.

While the mechanisms by which chemical signals control cell fate have been well studied, the impact of mechanical inputs on cell fate decisions is not well understood. Here, using the well-defined system of keratinocyte differentiation in the skin, we examine whether and how direct force transmission to the nucleus regulates epidermal cell fate. Using a molecular biosensor, we find that tension on the nucleus through linker of nucleoskeleton and cytoskeleton (LINC) complexes requires integrin engagement in undifferentiated epidermal stem cells and is released during differentiation concomitant with decreased tension on A-type lamins. Read More

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Apico-basal cell compression regulates Lamin A/C levels in epithelial tissues.

Nat Commun 2021 03 25;12(1):1756. Epub 2021 Mar 25.

Max Planck Institute for the Physics of Complex Systems, Dresden, Germany.

The levels of nuclear protein Lamin A/C are crucial for nuclear mechanotransduction. Lamin A/C levels are known to scale with tissue stiffness and extracellular matrix levels in mesenchymal tissues. But in epithelial tissues, where cells lack a strong interaction with the extracellular matrix, it is unclear how Lamin A/C is regulated. Read More

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Di-phosphorylated BAF shows altered structural dynamics and binding to DNA, but interacts with its nuclear envelope partners.

Nucleic Acids Res 2021 04;49(7):3841-3855

Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette Cedex, France.

Barrier-to-autointegration factor (BAF), encoded by the BANF1 gene, is an abundant and ubiquitously expressed metazoan protein that has multiple functions during the cell cycle. Through its ability to cross-bridge two double-stranded DNA (dsDNA), it favours chromosome compaction, participates in post-mitotic nuclear envelope reassembly and is essential for the repair of large nuclear ruptures. BAF forms a ternary complex with the nuclear envelope proteins lamin A/C and emerin, and its interaction with lamin A/C is defective in patients with recessive accelerated aging syndromes. Read More

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Splice-inhibition therapy targets progeria.

Nat Med 2021 03;27(3):377-379

Karolinska Institutet, Department of Biosciences and Nutrition, Center for Innovative Medicine, Huddinge, Sweden.

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Systematic screening identifies therapeutic antisense oligonucleotides for Hutchinson-Gilford progeria syndrome.

Nat Med 2021 03 11;27(3):526-535. Epub 2021 Mar 11.

National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

Hutchinson-Gilford progeria syndrome (HGPS) is a rare, invariably fatal childhood premature aging disorder caused by a pre-messenger RNA (mRNA) splicing defect in the LMNA gene. We used combined in vitro screening and in vivo validation to systematically explore the effects of target sequence, backbone chemistry and mechanism of action to identify optimized antisense oligonucleotides (ASOs) for therapeutic use in HGPS. In a library of 198 ASOs, the most potent ASOs targeted the LMNA exon 12 junction and acted via non-RNase H-mediated mechanisms. Read More

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Mechanism of Nuclear Lamina Disruption and the Role of pUS3 in HSV-1 Nuclear Egress.

J Virol 2021 Mar 3. Epub 2021 Mar 3.

Department of Microbiology and Immunology, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA

Herpes simplex virus capsid envelopment at the nuclear membrane is coordinated by nuclear egress complex (NEC) proteins, pUL34 and pUL31, and is accompanied by alteration in the nuclear architecture and local disruption of nuclear lamina. Here, we examined the role of capsid envelopment in the changes of the nuclear architecture by characterizing HSV-1 recombinants that do not form capsids. Typical changes in nuclear architecture and disruption of the lamina were observed in the absence of capsids, suggesting that disruption of the nuclear lamina occurs prior to capsid envelopment. Read More

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Protean Regulation of Leukocyte Function by Nuclear Lamins.

Trends Immunol 2021 Apr 27;42(4):323-335. Epub 2021 Feb 27.

Molecular Signaling Section, Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases (NIAID), Rockville, MD 20892, USA. Electronic address:

The leukocyte nucleus must be sufficiently elastic to squeeze through tissue barriers during migration, but not so collapsible as to risk damaging chromatin. The proper balance is struck in part by the composition of the nuclear lamina, a flexible meshwork composed mainly of intermediate filaments woven from type A and type B lamin proteins, that is located subjacent to the inner nuclear membrane. There is now increasing evidence that, in addition to influencing nuclear shape and stiffness and cell migration, lamins and lamin-interacting proteins may also interact functionally with chromatin to influence leukocyte gene expression, differentiation, and effector function, including T cell differentiation, B cell somatic hypermutation, and the formation of neutrophil extracellular traps (NETosis). Read More

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Development of small-molecule tropomyosin receptor kinase (TRK) inhibitors for fusion cancers.

Acta Pharm Sin B 2021 Feb 23;11(2):355-372. Epub 2020 May 23.

State Key Laboratory of Biotherapy and Cancer Center, West China Hospital, and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu 610041, China.

Tropomyosin receptor kinase A, B and C (TRKA, TRKB and TRKC), which are well-known members of the cell surface receptor tyrosine kinase (RTK) family, are encoded by the neurotrophic receptor tyrosine kinase 1, 2 and 3 ( and ) genes, respectively. TRKs can regulate cell proliferation, differentiation and even apoptosis through the RAS/MAPKs, PI3K/AKT and PLC pathways. Gene fusions involving act as oncogenic drivers of a broad diversity of adult and pediatric tumors, and TRKs have become promising antitumor targets. Read More

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February 2021

Role of A- and B-type lamins in nuclear structure-function relationships.

Biol Cell 2021 Feb 26. Epub 2021 Feb 26.

Biology, Chromosome Biology Lab (CBL), Indian Institute of Science Education and Research (IISER), Dr. Homi Bhabha Road, Pune, 411008, India.

Nuclear lamins are type V intermediate filament proteins that form a filamentous meshwork beneath the inner nuclear membrane. Additionally, a sub-population of A- and B-type lamins localizes in the nuclear interior. The nuclear lamina protects the nucleus from mechanical stress and mediates nucleo-cytoskeletal coupling. Read More

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February 2021

LAP2alpha maintains a mobile and low assembly state of A-type lamins in the nuclear interior.

Elife 2021 Feb 19;10. Epub 2021 Feb 19.

Max Perutz Labs, Center for Medical Biochemistry, Medical University of Vienna, Vienna Biocenter Campus (VBC), Vienna, Austria.

Lamins form stable filaments at the nuclear periphery in metazoans. Unlike B-type lamins, lamins A and C localize also in the nuclear interior, where they interact with lamin-associated polypeptide 2 alpha (LAP2α). Using antibody labeling, we previously observed a depletion of nucleoplasmic A-type lamins in mouse cells lacking LAP2α. Read More

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February 2021

Adsorption mechanism of Zn, Ni, Cd, and Cu ions by carbon-based adsorbents: interpretation of the adsorption isotherms via physical modelling.

Environ Sci Pollut Res Int 2021 Feb 16. Epub 2021 Feb 16.

Laboratory of Quantum and Statistical Physics, LR18ES18, Faculty of Sciences of Monastir, Monastir University, Monastir, Tunisia.

A theoretical physicochemical and thermodynamic investigation of the adsorption of heavy metals Zn, Cd, Ni, and Cuon carbon-based adsorbents was performed with statistical physics fundaments. Particularly, the experimental adsorption isotherms of heavy metal removal, at 30°C and pH 5, using adsorbents obtained from the pyrolysis of three biomasses (cauliflower cores, broccoli stalks, and coconut shell) were modelled and interpreted with a homogeneous statistical physics adsorption model. Calculations indicated that the heavy metal adsorption with these carbon-based materials was a multi-ionic process where several ions interact simultaneously with the same carboxylic functional group on the adsorbent surface. Read More

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February 2021

Liquid chromatin Hi-C characterizes compartment-dependent chromatin interaction dynamics.

Nat Genet 2021 03 11;53(3):367-378. Epub 2021 Feb 11.

Program in Systems Biology, Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, MA, USA.

Nuclear compartmentalization of active and inactive chromatin is thought to occur through microphase separation mediated by interactions between loci of similar type. The nature and dynamics of these interactions are not known. We developed liquid chromatin Hi-C to map the stability of associations between loci. Read More

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A lamin A/C variant causing striated muscle disease provides insights into filament organization.

J Cell Sci 2021 Mar 22;134(6). Epub 2021 Mar 22.

Department of Biochemistry, University of Zurich, Winterthurerstrasse 190, 8057 Zurich, Switzerland

The gene encodes the A-type lamins, which polymerize into ∼3.5-nm-thick filaments and, together with B-type lamins and associated proteins, form the nuclear lamina. Mutations in cause a wide variety of pathologies. Read More

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The SC-35 Splicing Factor Interacts with RNA Pol II and A-Type Lamin Depletion Weakens This Interaction.

Cells 2021 Feb 1;10(2). Epub 2021 Feb 1.

Institute of Biophysics, Academy of Sciences of the Czech Republic, Královopolská 135, 612 65 Brno, Czech Republic.

The essential components of splicing are the splicing factors accumulated in nuclear speckles; thus, we studied how DNA damaging agents and A-type lamin depletion affect the properties of these regions, positive on the SC-35 protein. We observed that inhibitor of PARP (oly (ADP-ribose) polymerase) and more pronouncedly inhibitors of RNA polymerases, caused DNA damage and increased the SC35 protein level. Interestingly, nuclear blebs, induced by PARP inhibitor and observed in A-type lamin-depleted or senescent cells, were positive on both the SC-35 protein and another component of the spliceosome, SRRM2. Read More

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February 2021

Lamin B1 acetylation slows the G1 to S cell cycle transition through inhibition of DNA repair.

Nucleic Acids Res 2021 02;49(4):2044-2064

Department of Molecular Biology, Princeton University, Lewis Thomas Laboratory, Washington Road, Princeton, NJ 08544, USA.

The integrity and regulation of the nuclear lamina is essential for nuclear organization and chromatin stability, with its dysregulation being linked to laminopathy diseases and cancer. Although numerous posttranslational modifications have been identified on lamins, few have been ascribed a regulatory function. Here, we establish that lamin B1 (LMNB1) acetylation at K134 is a molecular toggle that controls nuclear periphery stability, cell cycle progression, and DNA repair. Read More

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February 2021

The nuclear envelope protein Net39 is essential for muscle nuclear integrity and chromatin organization.

Nat Commun 2021 01 29;12(1):690. Epub 2021 Jan 29.

Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX, USA.

Lamins and transmembrane proteins within the nuclear envelope regulate nuclear structure and chromatin organization. Nuclear envelope transmembrane protein 39 (Net39) is a muscle nuclear envelope protein whose functions in vivo have not been explored. We show that mice lacking Net39 succumb to severe myopathy and juvenile lethality, with concomitant disruption in nuclear integrity, chromatin accessibility, gene expression, and metabolism. Read More

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January 2021

Cellular stress signaling activates type-I IFN response through FOXO3-regulated lamin posttranslational modification.

Nat Commun 2021 01 28;12(1):640. Epub 2021 Jan 28.

Department of Pathology and Laboratory medicine, Weil Cornell Medicine, New York, NY, 10021, USA.

Neural stem/progenitor cells (NSPCs) persist over the lifespan while encountering constant challenges from age or injury related brain environmental changes like elevated oxidative stress. But how oxidative stress regulates NSPC and its neurogenic differentiation is less clear. Here we report that acutely elevated cellular oxidative stress in NSPCs modulates neurogenic differentiation through induction of Forkhead box protein O3 (FOXO3)-mediated cGAS/STING and type I interferon (IFN-I) responses. Read More

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January 2021

Physical evidence on desmin-lamin B interaction.

Cytoskeleton (Hoboken) 2021 Jan 28;78(1):14-17. Epub 2021 Jan 28.

Faculty of Medicine, Department of Medical Biology, Hacettepe University, Ankara, Turkey.

Desmin is a muscle specific intermediate filament protein located in cytoplasm. Lamin B, on the other hand, is a nuclear intermediate filament protein. There are studies suggesting a possible interaction between desmin and lamin B yet there is no physical evidence. Read More

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January 2021

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.

Acta Myol 2020 Dec 1;39(4):320-335. Epub 2020 Dec 1.

Laboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy.

LMNA gene encodes for lamin A/C, attractive proteins linked to nuclear structure and functions. When mutated, it causes different rare diseases called laminopathies. In particular, an Arginine change in Histidine in position 527 (p. Read More

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December 2020

Mandibuloacral dysplasia type A in five tunisian patients.

Eur J Med Genet 2021 Feb 8;64(2):104138. Epub 2021 Jan 8.

Laboratory of Human Genetics, Doctoral School of Science and Biotechnology, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunisia.

Mandibuloacral dysplasia with type A lipodystrophy is a rare autosomal recessive disorder characterized by craniofacial dysmorphism, type A lipodystrophy, clavicular dysplasia, and acroostelolysis. It is caused by homozygous or compound heterozygous missense mutations in LMNA gene. We report five Tunisian patients harboring the same homozygous c. Read More

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February 2021

Lamin B2 promotes the progression of triple negative breast cancer via mediating cell proliferation and apoptosis.

Biosci Rep 2021 Jan;41(1)

Department of VIP Ward, Tianjin Medical University Cancer Institute and Hospital, Tianjin, P.R. China.

Triple negative breast cancer (TNBC) is a more common type of breast cancer with high distant metastasis and poor prognosis. The potential role of lamins in cancer progression has been widely revealed. However, the function of lamin B2 (LMNB2) in TNBC progression is still unclear. Read More

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January 2021

In vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice.

Nature 2021 01 6;589(7843):608-614. Epub 2021 Jan 6.

Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA, USA.

Hutchinson-Gilford progeria syndrome (HGPS or progeria) is typically caused by a dominant-negative C•G-to-T•A mutation (c.1824 C>T; p.G608G) in LMNA, the gene that encodes nuclear lamin A. Read More

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January 2021