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*  Progeroid syndromes - Wikipedia
A-type lamins promote genetic stability by maintaining levels of proteins which have key roles in NHEJ and HR.[77] Mouse cells ... Defects in Lamin A/C[edit]. Lamin is required at the inner nuclear membrane to ensure the nucleus keeps its shape. Mutations in ... There are eight types of XP (XP-A through XP-G), plus a variant type (XP-V), all categorized based on the genetic cause. XP can ... "A dual role for A-type lamins in DNA double-strand break repair". Cell Cycle. 10 (15): 2549-60. doi:10.4161/cc.10.15.16531. PMC ...
https://en.wikipedia.org/wiki/Accelerated_aging_disease
*  Hutchinson-Gilford Progeria: Practice Essentials, Background, Pathophysiology
A progeroid syndrome in mice is caused by defects in A-type lamins. Nature. 2003 May 15. 423(6937):298-301. [Medline]. ... Hutchinson-Gilford progeria mutant lamin A primarily targets human vascular cells as detected by an anti-Lamin A G608G antibody ... Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin. Genes Dev. 2008 Apr 1. ... HGPS is caused by mutations in LMNA that result in the production of an abnormal form of lamin A termed progerin. ...
https://emedicine.medscape.com/article/1117344-overview
*  Representative histopathological analysis of muscle bio | Open-i
The ATP enzyme staining revealed a predominance of type I fibers. Immunofluorescence staining for emerin and lamin A/C revealed ... The ATP enzyme staining revealed a predominance of type I fibers. Immunofluorescence staining for emerin and lamin A/C revealed ... C) Staining of the ATP enzyme revealed type I fiber predominance. (D) Immunofluorescence staining using a monoclonal antibody ... E) Immunofluorescence staining using a monoclonal antibody against lamin A/C revealed a normal muscle fiber nuclear membrane. ( ...
https://openi.nlm.nih.gov/detailedresult.php?img=PMC4581790_MMR-12-04-5065-g02&req=4
*  Cells | Free Full-Text | A Perspective on the Experimental Techniques for Studying Lamins
... since a wide range of diseases are induced by mutations in the gene coding for A-type lamins, globally known as laminopathies. ... Moreover, it has been demonstrated that lamins are involved in other pathological conditions, like cancer. The role of lamins ... The present work is aimed to review some interesting experimental techniques performed so far to study lamins. Scientists can ... This multidisciplinary approach has contributed to resolving the unique features of lamins and has provided a thorough insight ...
http://www.mdpi.com/2073-4409/6/4/33
*  Divison of Cancer Biology
In particular, silencing of A-type lamins has been linked to poor prognosis in different types of cancer. We are using cells ... In particular, mutations in the LMNA gene encoding the nuclear proteins A-type lamins lead to a variety of changes of nuclear ... In addition to mutations, changes in the expression of A-type lamins are emerging as a factor contributing to tumorigenesis. ... Our studies indicate that A-type lamins deficiency impacts on the maintenance of telomere structure, length and function as ...
http://biochem.slu.edu/faculty/gonzalo/researchprograms.shtml
*  International Journal of Pharmaceutical Sciences and Drug Research 2014; 6(4): 253-262
50-51] There are two types of lamins: Type A and Type B. A-type lamins include two major products, lamin A and lamin C, and two ... Steen RL, Collas P. Mistargeting of B-type lamins at the end ofmitosis: implications on cell survival and regulation of lamins ... 7-8, 48] Normal processing of Lamin A disrupted elastin fibres, and deposition of extracellular Lamins are type V intermediate ... 53-55] In contrast to lamin C, lamin A is produced by post-translational processing of the prelamin A precursor. Lamin A is ...
http://spotidoc.com/doc/318324/international-journal-of-pharmaceutical-sciences-and-drug...
*  Prelamin-A/C
Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in ... During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are ... Type. Active / Inconclusive / Inactive. Description. 1459 confirmatory. 0 / 343 / 936 Validation of Assay for Modulators of ... qHTS Assay for Modulators of Lamin A Splicing. 1498 confirmatory. 0 / 131 / 21 Confirmation Concentration-Response Assay for ...
https://pharos.nih.gov/idg/targets/P02545
*  Severe Myocardial Fibrosis Caused by a Deletion of the 5' End of the Lamin A/C Gene | JACC: Journal of the American College of...
2000) Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet 9: ... 2000) Head and/or CaaX domain deletions of lamin proteins disrupt preformed lamin A and C but not lamin B structure in ... limb-girdle muscular dystrophy type 1B (21); autosomal recessive Charcot-Marie-Tooth disease type 2B1 (22); Dunnigan-type ... 1993) Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J Biol Chem 268:16321-16326. ...
http://www.onlinejacc.org/content/49/25/2430
*  Familial partial lipodystrophy - Wikipedia
Six types (1-6) have been described. Types 1-5 are inherited in an autosomal dominant fashion. Type 1 (Kobberling variety, FPL1 ... Mutations associated with FPL have been reported in LMNA (lamin A/C), PPARG (PPARγ), AKT2 (AKT serine/threonine kinase 2), ... Type 3 is due to mutations in the PPARG gene. It is rare with approximately 30 cases reported to date. It is similar to type 2 ... Type 4 is due to mutations in the PLIN1 gene. It is rare with only a small number of cases reported. Fat loss tends to affect ...
https://en.wikipedia.org/wiki/Familial_partial_lipodystrophy
*  Emery-Dreifuss muscular dystrophy
... the LMNA gene that encodes for lamin A and lamin C, and the SYNE1 and SYNE2 genes that encode for nesprin 1 and nesprin 2, ... respectively [2]. The most common type is autosomal dominant EDMD caused by a heterozygous LMNA mutation, followed by X-linked ... Lamin a truncation in Hutchinson-Gilford progeria. Science 2003; 300:2055.. *Chen L, Lee L, Kudlow BA, et al. LMNA mutations in ... Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal ...
https://www.uptodate.com/contents/emery-dreifuss-muscular-dystrophy
*  Hyperlipid: Dunnigan-type Familial Partial Lipodystrophy
Serum C-Reactive Protein and Free Fatty Acids Among Nondiabetic Carriers of Missense Mutations in the Gene Encoding Lamin A/C ( ... Type 1 diabetics also respond just as well to leptin injections alone, sans insulin, which is not widely known. Leptin controls ... So, does Dunnigan-type partial lipodystrophy cause elevated fatty acids to levels which might be potentially facilitative for ... In the latter type of hypoglycemia, pts usually never actually experience hypoglycemia, its merely culturally it was believed ...
http://high-fat-nutrition.blogspot.co.nz/2016/12/dunnigan-type-familial-partial.html
*  Congenital Muscle Disease Study of Patient and Family Reported Medical Information - Full Text View - ClinicalTrials.gov
Congenital Muscular Dystrophy (Including Unspecified/Undiagnosed) Dystroglycanopathy Congenital Fiber Type Disproportion Rigid ... LMNA-CMD/Lamin A/C/Laminopathy SEPN1-Related Myopathy Bethlem Myopathy Actin Aggregation Myopathy Cap Disease Central Core ... Congenital Fiber Type Disproportion Central Core Disease Walker-Warburg Syndrome Muscle Eye Brain Disease Myosin Storage ... Congenital fiber-type disproportion Multiminicore disease Myofibrillar myopathy Nemaline myopathy Tubular aggregate myopathy ...
https://clinicaltrials.gov/ct2/show/NCT01403402?cond=%22centronuclear+myopathy%22+OR+%22Myotubular+Myopathy%22&rank=3
*  "A Wrinkle in Time: Premature Aging in HGPS and RD" by Danielle Clark, Nicole Fields et al.
In wild-type cells, prelamin A undergoes farnesylation followed by cleavage that is carried out by the enzyme Zmpste24. A 50 ... are both caused by an irregular pathway of the processing of prelamin A to mature lamin A, an integral component of the nuclear ... are both caused by an irregular pathway of the processing of prelamin A to mature lamin A, an integral component of the nuclear ... In wild-type cells, prelamin A undergoes farnesylation followed by cleavage that is carried out by the enzyme Zmpste24. A 50 ...
https://publications.lakeforest.edu/eukaryon/vol4/iss1/19/
*  CMR-Verified Interstitial Myocardial Fibrosis as a Marker of Subclinical Cardiac Involvement in LMNA Mutation Carriers | JACC:...
2007) Severe myocardial fibrosis caused by a deletion of the 5′ end of lamin A/C gene. J Am Coll Cardiol 49:2430-2439. ... 39 ± 14 years) and had a higher pro-B-type natriuretic peptide level (median 333 ng/l [25th to 75th percentiles: 62 to 1,943] ... Lamin A/C (LMNA) gene mutation, identified in 10% of familial dilated cardiomyopathy (DCM) patients, is associated with an ... 2007) Mid-myocardial fibrosis by cardiac magnetic resonance in patients with lamin A/C cardiomyopathy. J Cardiovasc Magn Reson ...
http://imaging.onlinejacc.org/content/6/1/124
*  What does lamin type a mean?
Meaning of lamin type a. What does lamin type a mean? Information and translations of lamin type a in the most comprehensive ... Definition of lamin type a in the Definitions.net dictionary. ... Search for lamin type a on Amazon. *Search for lamin type a on ... What does lamin type a mean?. Definitions for lamin type a. Here are all the possible meanings and translations of the word ... Alternative searches for lamin type a:. *Search for Synonyms for lamin type a ...
https://www.definitions.net/definition/lamin%20type%20a
*  Universiteit Antwerpen - Molecular dissection of A-type lamin-regulated pathways
... known as lamins. Mutations in the LMNA gene, which encodes A-type lamins, or in the ZMPSTE24 gene, which encodes a zinc ... Molecular dissection of A-type lamin-regulated pathways. Datum: 2 oktober 2017 Locatie: Universiteit Gent, Campus Coupure, ... In summary, we show that redox balance, focal adhesion and cytoskeletal tension are affected by loss of A-type lamins. We ... Interestingly, functional validation showed that loss of A- type lamins perturbed the coordination between focal adhesion ...
https://www.uantwerpen.be/popup/kalenderonderdeel.aspx?calitem_id=5742&c=LANDP56&n=219948
*  A-type lamins: Guardians of the soma? - Semantic Scholar
Recent evidence has demonstrated that lamins A and C have essential functions in protecting cells from physical damage, as well ... Thus, the degenerative nature of laminopathies is explained because these lamins are essential for maintenance of somatic ... The gene LMNA encodes the proteins lamins A and C and is implicated in nine different laminopathies - inherited diseases that ... A-type lamins: Guardians of the soma?. @article{Hutchison2004AtypeLG, title={A-type lamins: Guardians of the soma?}, author={ ...
https://www.semanticscholar.org/paper/A-type-lamins%3A-Guardians-of-the-soma%3F-Hutchison-Worman/da5926aea28e26d16d1e258aa590f2d6bd7f3ec8
*  Lamina-associated polypeptide 2alpha binds intranuclear A-type lamins | Journal of Cell Science
Furthermore, selective disruption of A-type lamin structures by overexpression of lamin mutants in HeLa cells caused a ... Lamina-associated polypeptide 2alpha binds intranuclear A-type lamins. T. Dechat, B. Korbei, O.A. Vaughan, S. Vlcek, C.J. ... Lamina-associated polypeptide 2alpha binds intranuclear A-type lamins. T. Dechat, B. Korbei, O.A. Vaughan, S. Vlcek, C.J. ... Lamina-associated polypeptide 2alpha binds intranuclear A-type lamins. T. Dechat, B. Korbei, O.A. Vaughan, S. Vlcek, C.J. ...
http://jcs.biologists.org/content/113/19/3473?ijkey=0f7b44d238bca75de3f4ea8def8e7a5d8079fb29&keytype2=tf_ipsecsha
*  Evidence that Proteasome-Dependent Degradation of the Retinoblastoma Protein in Cells Lacking A-Type Lamins Occurs...
Lamin A/C is necessary for the retinoblastoma protein (pRB) stabilization through unknown mechanism(s). Two oncoproteins, ... To determine if gankyrin promotes pRB destabilization in the absence of lamin A/C, we first analyzed its protein levels in Lmna ... Two findings from this study also increase the likelihood that lamin A/C functions as a tumor suppressor. First, protein levels ... These findings suggest that lamin A-mediated degradation of pRB would be gankyrin-dependent. However, effective RNAi-enforced ...
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0000963
*  The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy. | Sigma...
Dunnigan type familial partial lipodystrophy (FPLD2; OMIM#151660) is caused in most cases by the A-type lamin R482W mutation. ... The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy.. [ ... These interactions involve the Ig-fold of A-type lamins and are favored upon SREBP1 binding to its DNA target sequences. We ... In contrast, both overexpression of LMNA R482W in primary human preadipocytes and endogenous expression of A-type lamins R482W ...
https://www.sigmaaldrich.com/catalog/papers/25524705
*  Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients | Journal of Cell Science
... a portion of the Ig-fold domain of A-type lamins (amino acids 450−469) in vertebrates and invertebrates. Homo sapiens lamin A ( ... S2. C2 myoblasts were transfected with Akt−HA constructs (wtAkt−HA or myrAkt−HA) and FLAG−lamin A constructs (WT: wild type, RW ... NP_492371). (B) Western blot analysis of unaffected human primary fibroblasts with antibodies against phospho-A-type lamins. ... Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients ...
http://jcs.biologists.org/content/123/22/3893.supplemental
*  Emerin and A-type lamin-deficient cells have impaired m | Open-i
Emerin and A-type lamin-deficient cells have impaired mechanotransduction. (a) Expression of the mechanosensitive genes iex-1 ... and A-type lamin-deficient cells respectively, P , 0.05 for wild-type vs. emerin-deficient and wild-type vs. A-type lamin- ... and A-type lamin-deficient cells respectively, P , 0.05 for wild-type vs. emerin-deficient and wild-type vs. A-type lamin- ... for wild-type, emerin-deficient, and A-type lamin-deficient cells, respectively, P , 0.05 for wild-type vs. A-type lamin- ...
https://openi.nlm.nih.gov/detailedresult.php?img=PMC2171355_200502148f6&req=4
*  Ghent University Academic Bibliography
Molecular dissection of A-type lamin-regulated pathways Tobias Corne (UGent) (2017) ...
https://biblio.ugent.be/publication?q=keyword+exact+%22Raman+spectroscopy%22
*  Tobias Corne<...
Deregulation of focal adhesion formation and cytoskeletal tension due to loss of A-type lamins Tobias Corne (UGent) , Tom ... In silico synchronization reveals regulators of nuclear ruptures in lamin A/C deficient model cells J Robijns, F Molenberghs, ... oxidative stress, mitochondria, prelamin a, nuclear lamina, lmna, laminopathies, cytoskeleton, silac, lamin a, reactive oxygen ... Sustained accumulation of prelamin A and depletion of lamin A/C both cause oxidative stress and mitochondrial dysfunction but ...
https://biblio.ugent.be/person/000100383781
*  Type A Insulin Resistance Syndrome Revealing a Novel Lamin A Mutation | Diabetes
Type A Insulin Resistance Syndrome Revealing a Novel Lamin A Mutation. Jacques Young, Louise Morbois-Trabut, Béatrice Couzinet ... Type A Insulin Resistance Syndrome Revealing a Novel Lamin A Mutation. Jacques Young, Louise Morbois-Trabut, Béatrice Couzinet ... Type A Insulin Resistance Syndrome Revealing a Novel Lamin A Mutation Message Subject (Your Name) has forwarded a page to you ... The familial partial lipodystrophy of the Dunnigan type, one of the diseases due to mutations in the lamin A/C (LMNA) gene, is ...
http://hw-f5-diabetes.highwire.org/content/54/6/1873