AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesInformation Science
Lamin Type ALamin Type BLaminsNuclear LaminaNuclear EnvelopeProgeriaThymopoietinsMuscular Dystrophy, Emery-DreifussNuclear ProteinsCell NucleusLipodystrophyLipodystrophy, Familial PartialAging, PrematureNuclear MatrixProtein PrenylationCaspase 6Cell Nucleus ShapeProtein PrecursorsIntermediate Filament ProteinsMitosisHeLa CellsMallory BodiesMutationChromatinMolecular Sequence DataFluorescent Antibody TechniqueFibroblastsAmino Acid SequenceFarnesyltranstransferaseMembrane ProteinsCardiomyopathy, DilatedInterphaseReceptors, Cytoplasmic and NuclearNucleoproteinsEncyclopedias as TopicNuclear Pore
MutationsLMNAGeneProteinsGenesProteinLaminopathiesChanges in laminDilated cardiomyopathyMature laminCardiomyopathiesIntermediateMutationMyocardialHuman diseasesProgerinInner nuclear membraneChromatinStructuralGeneticApoptosisDiagnosisChromosomeAbnormalitiesNuclear envelopePrecursorGeneticsMetabolicVentricularCardiacInfectious DiseasesProgressionResiduesProteomeCardiovascular diseaseCharacteristicAbnormalMuscular dystrophyNucleusPhenotypePrematureNeuromuscularAlterationsGaucherLacksConductionParkinson'sRare diseases
Mutations24
  • Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. (nih.gov)
  • Mutations in lamin genes can result in several genetic laminopathies, which may be life-threatening. (wikipedia.org)
  • Studies of lamins became more popular in the 1990s when it was discovered that mutations in the genes that code for lamins can be related to muscular dystrophies, cardiomyopathies, and neuropathies. (wikipedia.org)
  • At least 30 mutations in the LMNB1 gene have been found to cause autosomal dominant leukodystrophy with autonomic disease (ADLD). (medlineplus.gov)
  • A disparate group of seemingly unrelated diseases with different affected organ systems has been attributed to lamin A/C mutations. (bmj.com)
  • Novelli et al analysed lamin A/C for mutations in five consanguineous Italian families with MAD. (bmj.com)
  • Mutations in these genes result in diverse diseases collectively referred to as the laminopathies. (bmj.com)
  • In the last decade, a number of diseases associated with tissue degeneration and premature aging have been linked with mutations in lamin A or emerin. (portlandpress.com)
  • Despite highly aberrant nuclear distributions of A-type lamins and emerin in lymphoblastoid cell lines derived from patients with emerin or lamin A mutations, little or no change in chromosome location was detected. (portlandpress.com)
  • Either at genomic or at proteomic level, mutations have significant impact on normal gene or protein function, and human diseases could be associated with mutations like nonsynonymous single-nucleotide variations (nsSNVs) on amino acids. (hindawi.com)
  • Although data of both gene mutations and PTMs are increasing fast, the proteome-wide analysis on the relationship between damaged PTMs and human diseases is not well studied. (hindawi.com)
  • Brian also studies the genetic mutations underlying diseases such as dilated cardiomyopathy , muscular dystrophy , and Hutchinson-Gilford Progeria Syndrome , which resembles premature aging. (lifeboat.com)
  • The mutations being studied affect a class of molecules called A-type nuclear lamins, and the lab is exploring their roles in health and disease. (lifeboat.com)
  • The unique caused by mutations in the lamin A/C gene localization of emerin in desmosomes and on chromosome 1 (1q11-q23) [ 3 ]. (who.int)
  • Background: Lamin A/C mutations show heterogeneous phenotypes expanding from cardiopathies to lipodystrophies. (endocrine-abstracts.org)
  • EDMD2/EDMD3 is due to mutations (autosomal dominant and autosomal recessive, respectively) in the LMNA gene that codes for lamins A and C. Mutations in LMNA occur throughout the gene and can cause several different phenotypes (see Causes ). (medscape.com)
  • Whatever the true mechanism, the discovery of mutations in several different nuclear membrane proteins that cause similar diseases will likely eventually lead to a better understanding of nuclear membrane physiology and the pathophysiology of diseases caused by mutations in these proteins. (medscape.com)
  • The symptoms of these diseases arise not because a master gene controlling ageing is damaged, but because of mutations that give the appearance and manifestation of ageing through damage to genes governing function of specific biological structures. (newscientist.com)
  • Half of all known disease-causing mutations involve a single-letter change, most of which can be corrected with existing base editors, says Liu. (newscientist.com)
  • Mutations in the LMNA gene, encoding nuclear lamins A and C, cause a diverse range of diseases collectively called laminopathies. (jefferson.edu)
  • Despite its ubiquitous expression in most differentiated somatic cells, mutations in LMNA lead to tissue-specific diseases predominantly affecting highly metabolic tissues such as the striated muscle and adipose tissue. (jefferson.edu)
  • Congenital neuromuscular and muscular dystrophy diseases associated with mutations in the LAMIN TYPE A (Lamin A/C or LMNA gene). (bvsalud.org)
  • Human genetic studies have identified mutations in the sodium channel SCN5A gene causing tachyarrhythmia disorders, as well as progressive cardiac conduction system diseases, or overlapping syndromes. (medscape.com)
  • There are a myriad of mutations identified in genes encoding cardiac transcription factors, ion channels, gap junctions, energy metabolism regulators, lamins and other structural proteins. (medscape.com)
LMNA11
  • Expressed in differentiated cells, A-type lamins originate from the LMNA gene. (wikipedia.org)
  • Thus far among the lamins, these have been described only for LMNA , which maps to chromosome 1q21.2 and encodes lamin A and lamin C through alternative splicing. (bmj.com)
  • Recently, MAD has been shown to be caused by a specific mutation (R527H) in LMNA , which encodes lamins A and C. (bmj.com)
  • Lamins A and C, in contrast, arise through alternative splicing of the same primary transcript encoded by the LMNA gene, expression of which is developmentally regulated. (rupress.org)
  • LMNA-related heart disease has recently been shown to be associated with a high incidence of phenotypic progression and adverse arrhythmic and non-arrhythmic events. (endocrine-abstracts.org)
  • Mammalian genomes contain 3 lamin genes: LMNA, which encodes lamin A and lamin C (A-type lamins), as well as LMNB1 and LMNB2 that encode lamin B1 and B2 (B-type lamins), respectively. (aad.org)
  • Dilatative Kardiomyopathie assoziiert mit Reizleitungsstörungen und Skelettmyopathie ist mit Mutationen im Gen für Lamin A und Lamin C (LMNA) korreliert. (uni-wuerzburg.de)
  • Da über 90 % der LMNA-Mutationen Missense-Mutationen sind, resultierte daraus die Hypothese, dass die mu-tierten Proteine über einen dominant-negativen Effekt die dreidimensionale Struktur der Lamin-Intermediärfilamente zerstören. (uni-wuerzburg.de)
  • Lamin A and lamin C are structural filament proteins in the cell nucleus, encoded by the gene LMNA . (msdmanuals.com)
  • Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. (thermofisher.com)
  • Enfermedades de distrofia neuromuscular y muscular congénita asociadas a mutaciones en la LAMINA DE TIPO A (gen lamina A/C o LMNA). (bvsalud.org)
Gene21
  • This gene encodes a B type nuclear lamin. (nih.gov)
  • Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. (nih.gov)
  • This nucleoplasmic lamin A environment tends to be euchromatic, suggesting distinct roles of lamin A in the regulation of gene expression in peripheral and more central regions of the nucleus. (frontiersin.org)
  • We discuss associated epigenetic and genome conformation changes elicited by the lamin A R482W mutation at the gene level. (frontiersin.org)
  • Lamins have elastic and mechanosensitive properties, and can alter gene regulation in a feedback response to mechanical cues. (wikipedia.org)
  • Two isoforms, lamins A and C, can be created from this gene via alternative splicing. (wikipedia.org)
  • The LMNB1 gene provides instructions for making the lamin B1 protein. (medlineplus.gov)
  • In rare cases, a deletion of genetic material near the beginning of the LMNB1 gene leading to increased production of lamin B1 causes ADLD. (medlineplus.gov)
  • Through these associations, the lamins may have more expanded roles at the cellular level and control diverse functions such as DNA synthesis, gene expression, and apoptosis. (bmj.com)
  • Mutational analysis of the lamin A/C gene revealed homozygosity for the identical R527H mutation as reported previously, but with a distinct haplotype. (bmj.com)
  • This disease, which is caused by a mutation in the Huntington gene, is characterised by alterations in motor coordination and in cognitive function. (fundacionareces.es)
  • The severity of cardiac disease is much gene, which is located on the Xcchromoc greater than the myopathy [ 4 ]. (who.int)
  • Emerin is a ubiquitous inner nuclear membraneprotein, presentin nearly all cell types, although its highest expression is in skeletal and cardiacmuscle.Emerin binds to many nuclear proteins, including several gene-regulatory proteins (eg, barrier-to-autointegration factor, germ cell-less, Btf), nesprins (proteins that act as molecular scaffolds), F-actin, and lamins. (medscape.com)
  • The disease is caused by a mutation in the lamin A gene, which causes an aberrantly spliced form of lamin A called progerin to be produced. (imb.de)
  • In progeria, for example, the decisive damage is to a gene that makes lamin A, a protein located just under the nuclear membrane of a cell. (newscientist.com)
  • People with progeria have a mutated version of the gene which produces progerin, an abnormal and malfunctioning version of lamin A. This results in the symptoms of premature ageing. (newscientist.com)
  • Maria Eriksson of the Karolinska Institute in Sweden, who discovered the progeria mutation in 2003, also thinks it unlikely that Brooke's condition relates to progeria, or to damage to the lamin A gene. (newscientist.com)
  • CRISPR gene editing has been used to more than double the lifespan of mice engineered to have the premature ageing disease progeria , also greatly improving their health. (newscientist.com)
  • Hutchinson-Gilford progeria syndrome is a rare condition caused when a mutation, which probably took place in the testes or ovaries of a child's parents, results in a single DNA letter change in one of the two copies of the gene for the lamin A protein. (newscientist.com)
  • People with progeria still have one healthy copy of the lamin A gene - the problem is the mutant progerin protein. (newscientist.com)
  • He and his colleagues have now used a CRISPR base editor to correct the single-letter change that causes almost all cases of progeria, first in skin cells taken from a person with progeria and then in mice with a human version of the lamin A gene. (newscientist.com)
Proteins16
  • The lamin family of proteins make up the matrix and are highly conserved in evolution. (nih.gov)
  • During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. (nih.gov)
  • Lamins, also known as nuclear lamins are fibrous proteins in type V intermediate filaments, providing structural function and transcriptional regulation in the cell nucleus. (wikipedia.org)
  • Nuclear lamins interact with inner nuclear membrane proteins to form the nuclear lamina on the interior of the nuclear envelope. (wikipedia.org)
  • Lamin proteins are involved in the disassembling and reforming of the nuclear envelope during mitosis, the positioning of nuclear pores, and programmed cell death. (wikipedia.org)
  • Further investigations found evidence that supports that all IF proteins arose from a common lamin-like ancestor. (wikipedia.org)
  • however, the presence of lamins is not a requirement for simultaneously containing IF proteins. (wikipedia.org)
  • Furthermore, sequence comparisons between lamins and IF proteins support that an amino-acid sequence that is characteristic of lamins is found in early forms of IF proteins. (wikipedia.org)
  • Similar to other IF proteins, lamins self-assemble into more complex structures. (wikipedia.org)
  • Now a large and ever increasing number of genetic subtypes has been described, and major advances in molecular and cellular biology have clarified the understanding of the role of different proteins in the physiology of peripheral nerve conduction in health and in disease. (medscape.com)
  • Lamins are intermediate filament proteins comprising a major structural component of the nuclear lamina, which underlies the inner membrane of the nuclear envelope in most somatic cells. (bmj.com)
  • There are a number of inner nuclear envelope proteins that may have roles in chromosome location and anchorage, e.g. emerin and A-type lamins. (portlandpress.com)
  • In mammals, mutation of proteins involved in the nuclear architecture (lamins and lamin associated proteins) results in diseases associated with genomic instability. (cea.fr)
  • This complex includes nuclear membrane integral and associated proteins including emerin, lamin A/C, SUN1, SUN2, nesprin-1, and nesprin-2 that are proposed to form a mechanical link between the nucleoskeleton and cytoskeleton. (medscape.com)
  • [ 1 ] Even though these proteins are ubiquitously expressed, disease manifestations are tissue specific for as yet unclear reasons. (medscape.com)
  • The nuclear lamina (NL) is present in all animals and is composed of type V intermediate filaments called lamins plus lamin associated proteins. (aad.org)
Genes4
  • Increased lamin B1 activity leads to decreased expression of genes that are important for myelin function. (medlineplus.gov)
  • In mammalian somatic cells, there are four major lamins, A, B1, B2, and C. The B-type lamins are encoded by separate genes (LMNB1 and LMNB2) and, as a class, are found in the nuclei of all mammalian somatic cells. (rupress.org)
  • There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. (thermofisher.com)
  • When Walker and his colleagues sequenced Brooke's DNA, they found that the genes associated with the premature-ageing diseases were normal, unlike the mutated versions in patients with Werner's Syndrome and progeria . (newscientist.com)
Protein10
  • Lamin B2 contributes to the proliferation of bladder cancer cells via activating the expression of cell division cycle‑associated protein 3. (nih.gov)
  • It wasn't until 1986 that an analysis of lamin cDNA clones across a variety of species supported that lamins belong to the intermediate filament (IF) protein family. (wikipedia.org)
  • Lamin B1 is a structural protein called an intermediate filament protein. (medlineplus.gov)
  • As a result of the loss of this region, LMNB1 is overexpressed and production of the lamin B1 protein is increased, similar to the cases that are caused by LMNB1 duplication. (medlineplus.gov)
  • have previously shown that reassembly of B-type lamins is under the control of both protein phosphatase 1 (PP1) and an A-kinase anchoring protein, AKAP149. (rupress.org)
  • In a study published in mBio , the team reported how a protein of the Ebola virus, VP24, interacts with the double-layered membrane of the cell nucleus (known as the nuclear envelope), leading to significant damage to cells along with virus replication and the propagation of disease. (sciencedaily.com)
  • These components are emerin and the inner membrane constituents lamin A/C and lamin B. Specifically, the VP24 protein decreases interaction of lamin A/C and emerin, compromising the integrity of the nuclear membrane, which, in turn, results in leakage of DNA and the loss of function by the body's disease-fighting cells. (sciencedaily.com)
  • However protein activities are closer to disease activities. (hindawi.com)
  • The mutation activates an alternative splice site, resulting in accumulation of an abnormal lamin A-derived protein named progerin. (aad.org)
  • LMNB1 encodes for Lamin B1, a protein of the nuclear lamina. (raredis.org)
Laminopathies4
  • Current research is being performed to develop treatment methods for the aforementioned laminopathies and to investigate the role lamins play in the aging process. (wikipedia.org)
  • A lterations in the lamin (type A and B), the main fibroid component of the nuclear laminin eukaryote cells, give rise to a series of diseases known as laminopathies. (fundacionareces.es)
  • That disruption is quite dramatic and replicates rare, genetic diseases known as laminopathies, which can result in severe muscular, cardiovascular, and neuronal complications. (sciencedaily.com)
  • His research team has developed Drosophila cardiac and skeletal muscle disease models of laminopathies and validated Drosophila phenotypes in human muscle biopsy tissue from laminopathy patients (recently completed NIH R21 and pending R01 grants). (uab.edu)
Changes in lamin1
  • While lamin B1 is found in cells throughout the body, it appears that cells in the brain are especially sensitive to changes in lamin B1. (medlineplus.gov)
Dilated cardiomyopathy2
  • These include Charcot-Marie-Tooth disease type 2B, 7 forms of dilated cardiomyopathy, 8 both autosomal dominant and autosomal recessive forms of Emery-Dreifuss muscular dystrophy, 9, 10 limb girdle muscular dystrophy type 1B, 11 Dunnigan-type familial partial lipodystrophy, 12- 14 and Hutchinson-Gilford progeria. (bmj.com)
  • Lamin A/C cardiomyopathies are genetic disorders causing dilated cardiomyopathy, a variety of arrhythmias, conduction disorders, and increased risk of sudden death. (msdmanuals.com)
Mature lamin2
  • A CaaX motif is found within the unique residues in prelamin A. Due to the presence of the CaaX motif, prelamin A undergoes a series of posttranslational modifications to become mature lamin A. These steps include farnesylation of the carboxyl-terminal cysteine, endoproteolytic release of the terminal amino acids, carboxymethalation of the accessible farnesylcysteine, and removal of the final fifteen residues by a zinc metalloprotease. (wikipedia.org)
  • Proteolytic cleavage by the ZMPSTE24 protease removes the last 15 amino acid residues and the hydrophobic farnesyl group to produce mature lamin A, which is found both at the NL and in the nuclear interior. (aad.org)
Cardiomyopathies2
  • In addition, the lab is actively engaged in studies examining regulation of contractility by microtubules and other cytoskeletal elements, cardiotoxicity associated with VEGF-anti-angiogenic tyrosine kinase inhibitors, disease-associated shifts in cardiac metabolism, mechanisms of inherited cardiomyopathies, advanced myocardial phenotyping using digital pathology and machine learning techniques, and integrated genomic inquiries designed to identify molecular mechanisms of myocardial pathology. (upenn.edu)
  • Lamin A/C cardiomyopathies account for about 5 to 10% of idiopathic dilated cardiomyopathies. (msdmanuals.com)
Intermediate1
  • The structure of lamins is composed of three units that are common among intermediate filaments: a central α-helical rod domain containing heptad repeats surrounded by globular N and C-terminal domains. (wikipedia.org)
Mutation5
  • The hot-spot lamin A R482W mutation causing familial partial lipodystrophy of Dunnigan-type (FPLD2), affects lamin A association with chromatin at the nuclear periphery and in the nuclear interior, and is associated with 3-dimensional (3D) rearrangements of chromatin. (frontiersin.org)
  • 15, 16 Recently, Novelli et al categorised mandibuloacral dysplasia as a laminopathy resulting from lamin A/C mutation. (bmj.com)
  • 17 Homozygosity for a single mutation (R527H) was found in all nine affected individuals, who also shared a common disease haplotype. (bmj.com)
  • In collaboration with a group of neurologists from the Hospital de la Santa Creu i Sant Pau, Barcelona, we will analyse lamin alterations in blood plasma and lymphocytes from carriers of the mutation as well as patients at different stages of the disease. (fundacionareces.es)
  • The phenotypic heterogeneity of sickle cell disease is likely the result of multiple genetic factors and their interaction with the sickle mutation. (biomedcentral.com)
Myocardial2
  • Many of our inquiries are initiated by multilevel examinations of explanted human heart tissues obtained at the time of transplantation or organ donation to permit insights into both the heterogeneity of myocardial adaptations to disease and identification of dominant mechanisms and responses. (upenn.edu)
  • It is correlated with increased risk of cardiovascular disease and myocardial infarction in diabetic patients and in those with chronic kidney disease (CKD). (revistanefrologia.com)
Human diseases5
  • The role of lamin B2 in human diseases. (nih.gov)
  • This notion has been lent considerable weight in recent years by the findings that lamina and NE defects are linked to a number of human diseases ( Wilson 2000 ). (rupress.org)
  • The damaged PTMs could be the reason of the development of some human diseases. (hindawi.com)
  • In this work, we chose eight experimentally demonstrated damaged PTMs to elucidate their association to human diseases including inherited diseases and cancers (somatic diseases). (hindawi.com)
  • These interrelated disciplines are crucial for understanding how macromolecular machines form and function, and what causes them to malfunction, which can provide important insights into many different human diseases. (viennabiocenter.org)
Progerin1
  • We are interested in understanding how progerin disrupts proteostasis in the cell, as well as identifying new anti-ageing pathways that can be used to treat disease. (imb.de)
Inner nuclear membrane1
Chromatin6
Structural1
  • Lamins are integral structural components of the nuclear lamina hypothesised to be involved in numerous cellular processes. (bmj.com)
Genetic4
  • One of these, which is caused by a genetic duplication that produces an increase in the levels of B1 lamin, involves motor and cognitive deficits together with demyelation of the central nervous system. (fundacionareces.es)
  • Such genetic alterations are the main causes of cancer and other genetic diseases. (cea.fr)
  • His research focuses on disruptions of circadian rhythms associated with cardiometabolic, muscular, and sleep disorders that are hallmarks of many genetic, metabolic, and aging diseases. (uab.edu)
  • His lab has been at the forefront of developing and using clinically-relevant genetic models of human systemic metabolic abnormalities, cardiometabolic disease, myopathies, neuropathies, and aging using pathophysiological, cell-molecular, genetics, and nutritional approaches. (uab.edu)
Apoptosis1
  • These complex structures allow nuclear lamins to perform their specialized functions in maintaining the shape of the nucleus as well as roles during mitosis and apoptosis. (wikipedia.org)
Diagnosis2
  • The Centers for Disease Control and Prevention (CDC) also supports early identification and evaluation of motor delays to enable a quicker referral to a specialist for diagnosis. (medscape.com)
  • The role of MGUS in the presence of at least one clinical sign, such as low platelet count, organomegaly, bone pain, or bleeding tendency, could aid in initiating GD screening with DBS, thus reducing the period between symptom onset and the diagnosis of this rare disease. (raredis.org)
Chromosome1
  • Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. (thermofisher.com)
Abnormalities2
  • Its abnormalities manifest themselves in various diseases, including sclerosing bone disorder (SBD). (nature.com)
  • Abnormalities in cardiac conduction can occur due to a variety of factors, including developmental and congenital defects, acquired injury or ischemia of portions of the conduction system, or less commonly due to inherited diseases that alter cardiac conduction system function. (medscape.com)
Nuclear envelope4
Precursor2
  • Unlike lamin C, Lamin A is generated in a precursor form called prelamin A. Prelamin A and lamin C differ in structure only at the carboxyl-terminus. (wikipedia.org)
  • The lamin A precursor also contains a CaaX motif and is initially farnesylated. (aad.org)
Genetics1
  • Knowledge derived from human genetics and from experimental studies in engineered animal models has led to the discovery of multiple molecular defects responsible for progressive conduction system diseases. (medscape.com)
Metabolic1
  • Specifically, Brian's lab focuses on cardiovascular disease and metabolic syndromes like type II diabetes. (lifeboat.com)
Ventricular1
  • Morphologic findings include atrial enlargement without increased ventricular wall thickness or ventricular cavity dilation, the absence of eosinophilic infiltration, and the absence of pericardial disease. (medscape.com)
Cardiac3
  • Treatment was seen in the gluteus maximus and delc is primarily focused on the cardiac disease, toid muscles. (who.int)
  • Infants often present with predominantly respiratory signs and, in the absence of a precordial heave or prominent murmur, the underlying cardiac disease may remain undiagnosed until cardiomegaly is detected on a chest radiograph. (medscape.com)
  • This 'Molecular Perspectives' will highlight several diverse mechanisms of isolated conduction system disease as well as conduction system degeneration associated with other cardiac and non-cardiac disorders. (medscape.com)
Infectious Diseases4
  • Our long-term goal is to understand and develop effective treatments for neurological complications of infectious diseases. (yale.edu)
  • Our current program employs a multidisciplinary approach to patient-oriented research in neuroHIV and other infectious diseases through fruitful collaborations with researchers in immunology, radiology, neuropsychology, virology, and molecular biomarkers. (yale.edu)
  • The human leukocyte antigen (HLA) system is widely used as a strategy in the search for the etiology of infectious diseases and autoimmune disorders. (biomedcentral.com)
  • International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases 2022 0 0. (cdc.gov)
Progression4
  • However, even for CMT1 a heated debate has focused on the relative contribution of axonal versus demyelinative damage to the disease manifestations and progression. (medscape.com)
  • We are now particularly interested to determine how this impacts on SMA disease development and progression. (abdn.ac.uk)
  • Most pharmaceutical sponsors seeking to develop agents to treat rare diseases will initiate data landscaping efforts to identify various data sources that might be informative with respect to disease prevalence, patient selection and identification, disease progression and. (raredis.org)
  • Our studies will begin to unravel the complex interplay between these two cell types and test therapeutic strategies to mitigate or even halt disease progression. (jefferson.edu)
Residues1
  • Furthermore, lamin C contains six unique amino-acid residues while prelamin A contains ninety-eight residues not found in the other isoform. (wikipedia.org)
Proteome1
  • In this study, we elucidated the proteome wide relationship of eight damaged PTMs to human inherited diseases and cancers. (hindawi.com)
Cardiovascular disease2
  • Consumption of red meat, source of saturated fatty acids and cholesterol may be associated with increased risks of diabetes, cardiovascular disease (CVD), and mortality risk.Methods: We studied 521 subjects, both genders, 253 centenarians (CENT) (100.26±1.98 age) and 268 controls (67.51±3.25 age), both low (LCR) and high cardiovascular risk (HCR), calculated based on QRISK®2-2016. (endocrine-abstracts.org)
  • His third NIH-NHLBI MPIR01 goal is to assess the contribution of insomnia in cardiovascular disease in Drosophila and humans, to delineate biological pathways linking sleep/circadian rhythms with cardiovascular diseases. (uab.edu)
Characteristic1
  • This gives rise to a characteristic spectrum of diabetic microvascular disease (retinopathy, nephropathy, and neuropathy) and macrovascular disease (heart disease and stroke) ( 1 - 4 ). (diabetesjournals.org)
Abnormal1
  • In true idiopathic RCM, endomyocardial biopsy and pathologic specimen findings are usually abnormal, although they may not be diagnostic for any single disease. (medscape.com)
Muscular dystrophy1
  • Although it was probably first described in the early 1900s, Emery-Dreifuss muscular dystrophy (EDMD) was not clearly delineated as a separate disease until the 1960s. (medscape.com)
Nucleus2
Phenotype1
  • Lamin B2 promotes the malignant phenotype of non-small cell lung cancer cells by upregulating dimethylation of histone 3 lysine 9. (nih.gov)
Premature2
  • Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare premature ageing disease in which patients age six times faster than normal. (imb.de)
  • Kubben N and Misteli T (2017) Shared molecular and cellular mechanisms of premature ageing and ageing-associated diseases . (imb.de)
Neuromuscular2
  • Although an elevated CK level warrants prompt referral to a neurologist, a normal level does not rule out neuromuscular disease, and a mildly elevated CK (1-2 times normal) also requires follow-up. (medscape.com)
  • The IAL aims to synergise the expertise in muscle and neuromuscular diseases of French teams and the expertise in immunology and inflammation of the Brazilian teams . (institut-myologie.org)
Alterations4
  • Additionally, alterations in the nuclear laminin Parkinson's disease suggest that they participate in neurodegenerative processes. (fundacionareces.es)
  • Our hypothesis is that alterations in the nuclear lamin caused by changes in the levels of the laminas may participate in the pathology of HD, so that therefore pharmacological modulation of these levels could be a good therapeutic strategy. (fundacionareces.es)
  • Current evidence demonstrates that positive family history and several alterations in lipid metabolism are all important risk factors for coronary artery disease (CAD). (biomedcentral.com)
  • However, diseases like CKD or diabetes induce alterations in their levels. (revistanefrologia.com)
Gaucher2
  • These include Fabry disease (X-linked recessive), Gaucher disease (autosomal recessive), glycogen storage diseases, and autosomal recessive hemochromatosis. (medscape.com)
  • Gaucher disease (GD) is a rare autosomal recessive inherited disorder caused by the lysosomal enzyme acid β-glucosidase deficiency. (raredis.org)
Lacks1
  • Here, prelamin A contains two extra exons that lamin C lacks. (wikipedia.org)
Conduction3
  • The first part of this review focuses on channelopathies associated with conduction system disease. (medscape.com)
  • Conduction system diseases associated with multisystem disorders, such as muscular and myotonic dystrophies, will be described. (medscape.com)
  • Inherited conduction system diseases can be life threatening and, although relatively uncommon overall, are known cause of mortality and morbidity in selected populations. (medscape.com)
Parkinson's1
  • We use a variety of techniques including neuropsychological assessments, experimental behavioral assessments and particularly advanced neuroimaging methods to study these questions in young and older adults and patients with mild cognitive impairment, Alzheimer's disease, Parkinson's disease and epilepsy. (hopkinsmedicine.org)
Rare diseases1
  • Orphanet journal of rare diseases 2022 0 0. (cdc.gov)