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92 relations: ACE inhibitor, Allele, Alternative splicing, Amino acid, Antimineralocorticoid, Artificial cardiac pacemaker, Autoimmune disease, Barraquer–Simons syndrome, Beta blocker, Bone, Buschke–Ollendorff syndrome, Cardiac muscle, Cardiomyopathy, Central nervous system, Charcot–Marie–Tooth disease, Chromosome abnormality, Connective tissue, Cutaneous condition, Cysteine, Diabetes mellitus, Dominance (genetics), Drosophila, Dysplasia, Emerin, Emery–Dreifuss muscular dystrophy, Epileptic seizure, Exon, Farnesyl pyrophosphate, Farnesyltransferase, Farnesyltransferase inhibitor, Fatty liver, Fungus, Gene dosage, Genetic disorder, Heart arrhythmia, Heart failure, Homologous recombination, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia, Hypertrophic cardiomyopathy, Implantable cardioverter-defibrillator, Inner nuclear membrane protein, Intermediate filament, Lamin, Lamin B receptor, Lamin B1, Lamin B2, LEM domain-containing protein 3, Leukodystrophy, Limb-girdle muscular dystrophy, Lipoatrophic diabetes, ..., Lipodystrophy, LMNA, Lonafarnib, Mandibuloacral dysplasia, Medical genetics, Messenger RNA, Metalloproteinase, Missense mutation, Multiple sclerosis, Muscle, Muscle weakness, Muscular dystrophy, Mutation, Myelodysplastic syndrome, Myocyte, Non-homologous end joining, Nuclear envelope, Nuclear lamina, Oligonucleotide, Orthopedic surgery, Osteoporosis, Pelger–Huet anomaly, Pelizaeus–Merzbacher disease, Peripheral neuropathy, Physical therapy, Plant, Post-translational modification, Prenylation, Progeria, Protease, Restrictive dermopathy, RNA splicing, Sense (molecular biology), Sex linkage, Shortness of breath, Skin, Spasticity, Syncope (medicine), Tipifarnib, Translation (biology), Werner syndrome, Zinc metalloproteinase STE24. Expand index (42 more) »
ACE inhibitor
An angiotensin-converting-enzyme inhibitor (ACE inhibitor) is a pharmaceutical drug used primarily for the treatment of hypertension (elevated blood pressure) and congestive heart failure.
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Allele
An allele is a variant form of a given gene.
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Alternative splicing
Alternative splicing, or differential splicing, is a regulated process during gene expression that results in a single gene coding for multiple proteins.
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Amino acid
Amino acids are organic compounds containing amine (-NH2) and carboxyl (-COOH) functional groups, along with a side chain (R group) specific to each amino acid.
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Antimineralocorticoid
An antimineralocorticoid, MCRA, or an aldosterone antagonist, is a diuretic drug which antagonizes the action of aldosterone at mineralocorticoid receptors.
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Artificial cardiac pacemaker
A pacemaker (or artificial pacemaker, so as not to be confused with the heart's natural pacemaker) is a medical device that generates electrical impulses delivered by electrodes to contract the heart muscles and regulate the electrical conduction system of the heart.
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Autoimmune disease
An autoimmune disease is a condition arising from an abnormal immune response to a normal body part.
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Barraquer–Simons syndrome
Barraquer–Simons syndrome (or acquired partial lipodystrophy, cephalothoracic lipodystrophy, and progressive lipodystrophy)) is a rare form of lipodystrophy, which usually first affects the head, and then spreads to the thorax. It is named for Luis Barraquer Roviralta (1855–1928), a Spanish physician, and Arthur Simons (1879–1942), a German physician. Some evidence links it to LMNB2.
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Beta blocker
Beta blockers, also written β-blockers, are a class of medications that are particularly used to manage abnormal heart rhythms, and to protect the heart from a second heart attack (myocardial infarction) after a first heart attack (secondary prevention).
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Bone
A bone is a rigid organ that constitutes part of the vertebrate skeleton.
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Buschke–Ollendorff syndrome
Buschke–Ollendorff syndrome, also known as dermatofibrosis lenticularis disseminata, is a rare genetic disorder associated with LEMD3.
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Cardiac muscle
Cardiac muscle (heart muscle) is one of the three major types of muscle, the others being skeletal and smooth muscle.
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Cardiomyopathy
Cardiomyopathy is a group of diseases that affect the heart muscle.
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Central nervous system
The central nervous system (CNS) is the part of the nervous system consisting of the brain and spinal cord.
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Charcot–Marie–Tooth disease
Charcot–Marie–Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group of varied inherited disorders of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body.
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Chromosome abnormality
A chromosome abnormality, disorder, anomaly, aberration, or mutation is a missing, extra, or irregular portion of chromosomal DNA.
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Connective tissue
Connective tissue (CT) is one of the four basic types of animal tissue, along with epithelial tissue, muscle tissue, and nervous tissue.
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Cutaneous condition
A cutaneous condition is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, hair, nails, and related muscle and glands.
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Cysteine
Cysteine (symbol Cys or C) is a semi-essential proteinogenic amino acid with the formula HO2CCH(NH2)CH2SH.
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Diabetes mellitus
Diabetes mellitus (DM), commonly referred to as diabetes, is a group of metabolic disorders in which there are high blood sugar levels over a prolonged period.
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Dominance (genetics)
Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.
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Drosophila
Drosophila is a genus of flies, belonging to the family Drosophilidae, whose members are often called "small fruit flies" or (less frequently) pomace flies, vinegar flies, or wine flies, a reference to the characteristic of many species to linger around overripe or rotting fruit.
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Dysplasia
Dysplasia (from Ancient Greek δυσ- dys-, "bad" or "difficult" and πλάσις plasis, "formation") is a term used in pathology to refer to an abnormality of development or an epithelial anomaly of growth and differentiation (epithelial dysplasia).
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Emerin
Emerin is a protein that in humans is encoded by the EMD gene, also known as the STA gene.
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Emery–Dreifuss muscular dystrophy
Emery–Dreifuss muscular dystrophy is a condition that mainly affects muscles used for movement, such as skeletal muscles and also affects the cardiac muscle, it is named after Alan Eglin H. Emery and Fritz E. Dreifuss.
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Epileptic seizure
An epileptic seizure is a brief episode of signs or symptoms due to abnormally excessive or synchronous neuronal activity in the brain.
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Exon
An exon is any part of a gene that will encode a part of the final mature RNA produced by that gene after introns have been removed by RNA splicing.
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Farnesyl pyrophosphate
Farnesyl pyrophosphate (FPP), also known as farnesyl diphosphate (FDP), is an intermediate in both the mevalonate and non-mevalonate pathways used by organisms in the biosynthesis of terpenes, terpenoids, and sterols.
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Farnesyltransferase
Farnesyltransferase is one of the three enzymes in the prenyltransferase group.
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Farnesyltransferase inhibitor
The farnesyltransferase inhibitors (FTIs) are a class of experimental cancer drugs that target protein farnesyltransferase with the downstream effect of preventing the proper functioning of the Ras (protein), which is commonly abnormally active in cancer.
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Fatty liver
Fatty liver is a reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis (i.e., abnormal retention of lipids within a cell).
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Fungus
A fungus (plural: fungi or funguses) is any member of the group of eukaryotic organisms that includes microorganisms such as yeasts and molds, as well as the more familiar mushrooms.
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Gene dosage
Gene dosage is the number of copies of a particular gene present in a genome.
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Genetic disorder
A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.
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Heart arrhythmia
Heart arrhythmia (also known as arrhythmia, dysrhythmia, or irregular heartbeat) is a group of conditions in which the heartbeat is irregular, too fast, or too slow.
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Heart failure
Heart failure (HF), often referred to as congestive heart failure (CHF), is when the heart is unable to pump sufficiently to maintain blood flow to meet the body's needs.
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Homologous recombination
Homologous recombination is a type of genetic recombination in which nucleotide sequences are exchanged between two similar or identical molecules of DNA.
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Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia is a defect in cholesterol biosynthesis.
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Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy (HCM) is a condition in which a portion of the heart becomes thickened without an obvious cause.
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Implantable cardioverter-defibrillator
An implantable cardioverter-defibrillator (ICD) or automated implantable cardioverter defibrillator (AICD) is a device implantable inside the body, able to perform cardioversion, defibrillation, and (in modern versions) pacing of the heart.
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Inner nuclear membrane protein
Inner nuclear membrane (INM) proteins are proteins that are embedded in or associated with the inner membrane of the nuclear envelope (NE).
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Intermediate filament
Intermediate filaments (IFs) are cytoskeletal components found in the cells of vertebrate animal species, and perhaps also in other animals, fungi, plants, and unicellular organisms.
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Lamin
Nuclear lamins, also known as Class V intermediate filaments, are fibrous proteins providing structural function and transcriptional regulation in the cell nucleus.
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Lamin B receptor
Lamin-B receptor is a protein, and in humans, it is encoded by the LBR gene.
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Lamin B1
Lamin-B1 is a protein that in humans is encoded by the LMNB1 gene.
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Lamin B2
Lamin B2 is a protein that in humans is encoded by the LMNB2 gene.
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LEM domain-containing protein 3
LEM domain-containing protein 3 (LEMD3), also known as MAN1, is an integral protein in the inner nuclear membrane (INM) of the nuclear envelope.
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Leukodystrophy
Leukodystrophy is one of a group of disorders characterized by degeneration of the white matter in the brain.
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Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy (LGMD) or Erb's muscular dystrophy is a genetically and clinically heterogeneous group of rare muscular dystrophies.
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Lipoatrophic diabetes
Lipoatrophic diabetes is a type of diabetes mellitus presenting with severe lipodystrophy in addition to the traditional signs of diabetes.
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Lipodystrophy
Lipodystrophy syndromes are a group of genetic or acquired disorders in which the body is unable to produce and maintain healthy fat tissue.
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LMNA
Lamin A/C also known as LMNA is a protein that in humans is encoded by the LMNA gene.
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Lonafarnib
Lonafarnib is a farnesyltransferase inhibitor (FTI) that has been investigated in a human clinical trial as a treatment for progeria, which is an extremely rare genetic disorder in which symptoms resembling aspects of aging are manifested at a very early age.
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Mandibuloacral dysplasia
Mandibuloacral dysplasia is a rare autosomal recessive syndrome characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicles, abbreviated and club-shaped terminal phalanges, acroosteolysis, atrophy of the skin of the hands and feet, and typical facial changes.
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Medical genetics
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.
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Messenger RNA
Messenger RNA (mRNA) is a large family of RNA molecules that convey genetic information from DNA to the ribosome, where they specify the amino acid sequence of the protein products of gene expression.
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Metalloproteinase
A metalloproteinase, or metalloprotease, is any protease enzyme whose catalytic mechanism involves a metal.
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Missense mutation
In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid.
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Multiple sclerosis
Multiple sclerosis (MS) is a demyelinating disease in which the insulating covers of nerve cells in the brain and spinal cord are damaged.
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Muscle
Muscle is a soft tissue found in most animals.
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Muscle weakness
Muscle weakness or myasthenia (my- from Greek μυο meaning "muscle" + -asthenia ἀσθένεια meaning "weakness") is a lack of muscle strength.
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Muscular dystrophy
Muscular dystrophy (MD) is a group of muscle diseases that results in increasing weakening and breakdown of skeletal muscles over time.
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Mutation
In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.
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Myelodysplastic syndrome
Myelodysplastic syndromes (MDS) are a group of cancers in which immature blood cells in the bone marrow do not mature and therefore do not become healthy blood cells.
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Myocyte
A myocyte (also known as a muscle cell) is the type of cell found in muscle tissue.
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Non-homologous end joining
Non-homologous end joining (NHEJ) is a pathway that repairs double-strand breaks in DNA.
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Nuclear envelope
The nuclear envelope, also known as the nuclear membrane, is made up of two lipid bilayer membranes which surrounds the nucleus, and in eukaryotic cells it encases the genetic material.
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Nuclear lamina
The nuclear lamina is a dense (~30 to 100 nm thick) fibrillar network inside the nucleus of most cells.
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Oligonucleotide
Oligonucleotides are short DNA or RNA molecules, oligomers, that have a wide range of applications in genetic testing, research, and forensics.
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Orthopedic surgery
Orthopedic surgery or orthopedics, also spelled orthopaedic, is the branch of surgery concerned with conditions involving the musculoskeletal system.
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Osteoporosis
Osteoporosis is a disease where increased bone weakness increases the risk of a broken bone.
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Pelger–Huet anomaly
Pelger–Huët anomaly (pronunciation) is a blood laminopathy associated with the lamin B receptor.
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Pelizaeus–Merzbacher disease
Pelizaeus–Merzbacher disease is a rare central nervous system disorder in which coordination, motor abilities, and intellectual function are delayed to variable extents.
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Peripheral neuropathy
Peripheral neuropathy (PN) is damage to or disease affecting nerves, which may impair sensation, movement, gland or organ function, or other aspects of health, depending on the type of nerve affected.
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Physical therapy
Physical therapy (PT), also known as physiotherapy, is one of the allied health professions that, by using mechanical force and movements (bio-mechanics or kinesiology), manual therapy, exercise therapy, and electrotherapy, remediates impairments and promotes mobility and function.
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Plant
Plants are mainly multicellular, predominantly photosynthetic eukaryotes of the kingdom Plantae.
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Post-translational modification
Post-translational modification (PTM) refers to the covalent and generally enzymatic modification of proteins following protein biosynthesis.
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Prenylation
Prenylation (also known as isoprenylation or lipidation) is the addition of hydrophobic molecules to a protein or chemical compound.
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Progeria
Progeria is an extremely rare autosomal dominant genetic disorder in which symptoms resembling aspects of aging are manifested at a very early age.
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Protease
A protease (also called a peptidase or proteinase) is an enzyme that performs proteolysis: protein catabolism by hydrolysis of peptide bonds.
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Restrictive dermopathy
Restrictive dermopathy is a rare, lethal autosomal recessive skin condition characterized by syndromic facies, tight skin, sparse or absent eyelashes, and secondary joint changes.
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RNA splicing
In molecular biology, splicing is the editing of the nascent precursor messenger RNA (pre-mRNA) transcript into a mature messenger RNA (mRNA).
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Sense (molecular biology)
In molecular biology and genetics, the sense of nucleic acid molecules (often DNA or RNA) is the nature of their roles and their complementary molecules' nucleic acid units' roles in specifying amino acids.
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Sex linkage
Sex linkage is the phenotypic expression of an allele related to the allosome (sex chromosome) of the individual.
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Shortness of breath
Shortness of breath, also known as dyspnea, is the feeling that one cannot breathe well enough.
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Skin
Skin is the soft outer tissue covering vertebrates.
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Spasticity
Spasticity is a feature of altered skeletal muscle performance with a combination of paralysis, increased tendon reflex activity, and hypertonia.
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Syncope (medicine)
Syncope, also known as fainting, is a loss of consciousness and muscle strength characterized by a fast onset, short duration, and spontaneous recovery.
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Tipifarnib
Tipifarnib (INN, proposed trade name Zarnestra) is a farnesyltransferase inhibitor that is being investigated in patients 65 years of age and older with newly diagnosed acute myeloid leukemia (AML).
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Translation (biology)
In molecular biology and genetics, translation is the process in which ribosomes in the cytoplasm or ER synthesize proteins after the process of transcription of DNA to RNA in the cell's nucleus.
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Werner syndrome
Werner syndrome (WS), also known as "adult progeria",James, William; Berger, Timothy; Elston, Dirk (2005).
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Zinc metalloproteinase STE24
Zinc metalloproteinase STE24 is a metalloproteinase enzyme associated with laminopathies.
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References
[1] https://en.wikipedia.org/wiki/Laminopathy
