An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.
A family of structurally-related DNA helicases that play an essential role in the maintenance of genome integrity. RecQ helicases were originally discovered in E COLI and are highly conserved across both prokaryotic and eukaryotic organisms. Genetic mutations that result in loss of RecQ helicase activity gives rise to disorders that are associated with CANCER predisposition and premature aging.
A family of enzymes that catalyze the exonucleolytic cleavage of DNA. It includes members of the class EC 3.1.11 that produce 5'-phosphomonoesters as cleavage products.
Proteins that catalyze the unwinding of duplex DNA during replication by binding cooperatively to single-stranded regions of DNA or to short regions of duplex DNA that are undergoing transient opening. In addition DNA helicases are DNA-dependent ATPases that harness the free energy of ATP hydrolysis to translocate DNA strands.
A characteristic symptom complex.
Enzymes that catalyze the release of mononucleotides by the hydrolysis of the terminal bond of deoxyribonucleotide or ribonucleotide chains.
Changes in the organism associated with senescence, occurring at an accelerated rate.
A potent mutagen and carcinogen. This compound and its metabolite 4-HYDROXYAMINOQUINOLINE-1-OXIDE bind to nucleic acids. It inactivates bacteria but not bacteriophage.
An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature greying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA.
An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.
A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.
The process by which a DNA molecule is duplicated.
Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
A single-stranded DNA-binding protein that is found in EUKARYOTIC CELLS. It is required for DNA REPLICATION; DNA REPAIR; and GENETIC RECOMBINATION.
A ubiquitously expressed telomere-binding protein that is present at TELOMERES throughout the cell cycle. It is a suppressor of telomere elongation and may be involved in stabilization of telomere length. It is structurally different from TELOMERIC REPEAT BINDING PROTEIN 1 in that it contains basic N-terminal amino acid residues.
A group of enzymes which catalyze the hydrolysis of ATP. The hydrolysis reaction is usually coupled with another function such as transporting Ca(2+) across a membrane. These enzymes may be dependent on Ca(2+), Mg(2+), anions, H+, or DNA.
The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.
Immunologically detectable substances found in the CELL NUCLEUS.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.
The first continuously cultured human malignant CELL LINE, derived from the cervical carcinoma of Henrietta Lacks. These cells are used for VIRUS CULTIVATION and antitumor drug screening assays.
An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
The decrease in the cell's ability to proliferate with the passing of time. Each cell is programmed for a certain number of cell divisions and at the end of that time proliferation halts. The cell enters a quiescent state after which it experiences CELL DEATH via the process of APOPTOSIS.
A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
A single chain of deoxyribonucleotides that occurs in some bacteria and viruses. It usually exists as a covalently closed circle.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.
The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.

The Saccharomyces cerevisiae Sgs1 helicase efficiently unwinds G-G paired DNAs. (1/250)

The Saccharomyces cerevisiae Sgs1p helicase localizes to the nucleolus and is required to maintain the integrity of the rDNA repeats. Sgs1p is a member of the RecQ DNA helicase family, which also includes Schizo-saccharomyces pombe Rqh1, and the human BLM and WRN genes. These genes encode proteins which are essential to maintenance of genomic integrity and which share a highly conserved helicase domain. Here we show that recombinant Sgs1p helicase efficiently unwinds guanine-guanine (G-G) paired DNA. Unwinding of G-G paired DNA is ATP- and Mg2+-dependent and requires a short 3' single-stranded tail. Strikingly, Sgs1p unwinds G-G paired substrates more efficiently than duplex DNAs, as measured either in direct assays or by competition experiments. Sgs1p efficiently unwinds G-G paired telomeric sequences, suggesting that one function of Sgs1p may be to prevent telomere-telomere interactions which can lead to chromosome non-disjunction. The rDNA is G-rich and has considerable potential for G-G pairing. Diminished ability to unwind G-G paired regions may also explain the deleterious effect of mutation of Sgs1 on rDNA stability, and the accelerated aging characteristic of yeast strains that lack Sgs1 as well as humans deficient in the related WRN helicase.  (+info)

Human werner syndrome DNA helicase unwinds tetrahelical structures of the fragile X syndrome repeat sequence d(CGG)n. (2/250)

Formation of hairpin and tetrahelical structures by a d(CGG) trinucleotide repeat sequence is thought to cause expansion of this sequence and to engender fragile X syndrome. Here we show that human Werner syndrome DNA helicase (WRN), a member of the RecQ family of helicases, efficiently unwinds G'2 bimolecular tetraplex structures of d(CGG)7. Unwinding of d(CGG)7 by WRN requires hydrolyzable ATP and Mg2+ and is proportional to the amount of added helicase and to the time of incubation. The efficiencies of unwinding of G'2 d(CGG)7 tetraplex with 7 nucleotide-long single-stranded tails at their 3' or 5' ends are, respectively, 3.5- and 2-fold greater than that of double-stranded DNA. By contrast, WRN is unable to unwind a blunt-ended d(CGG)7 tetraplex, bimolecular tetraplex structures of a telomeric sequence 5'-d(TAGACATG(TTAGGG)2TTA)-3', or tetramolecular quadruplex forms of an IgG switch region sequence 5'-d(TACAGGGGAGCTGGGGTAGA)-3'. The ability of WRN to selectively unwind specific tetrahelices may reflect a specific role of this helicase in DNA metabolism.  (+info)

Werner syndrome helicase contains a 5'-->3' exonuclease activity that digests DNA and RNA strands in DNA/DNA and RNA/DNA duplexes dependent on unwinding. (3/250)

We show that WRN helicase contains a unique 5'-->3' exonuclease activity in the N-terminal region. Adeletion mutant lacking 231 N-terminal amino acid residues, made in a baculovirus system, did nothave this activity, while it showed ATPase and DNA helicase activities. This exonuclease activity was co-precipitated with the helicase activity using monoclonal antibodies specific to WRN helicase, indicating that it is an integral component with WRN helicase. The exonuclease in WRN helicase does not digest free single-stranded DNA or RNA, but it digests a strand in the duplex DNA or an RNA strand in a RNA/DNA heteroduplex in a 5'-->3' direction dependent on duplex unwinding. The digestion products were identified as 5'-mononucleotides. Our data show that WRN helicase needs a single-stranded 3' overhang region for efficient binding and unwinding of duplex molecules, while blunt-ended or 5' overhang duplex molecules were hardly unwound. These findings suggest that the WRN helicase and integral 5'-->3' exonuclease activities are involved in preventing a hyper-recombination by resolving entangled structures of DNA and RNA/DNA heteroduplexes that may be generated during rep-lication, repair and/or transcription.  (+info)

p53-mediated apoptosis is attenuated in Werner syndrome cells. (4/250)

The WRN DNA helicase is a member of the DExH-containing DNA helicase superfamily that includes XPB, XPD, and BLM. Mutations in WRN are found in patients with the premature aging and cancer susceptibility syndrome known as Werner syndrome (WS). p53 binds to the WRN protein in vivo and in vitro through its carboxyl terminus. WS fibroblasts have an attenuated p53- mediated apoptotic response, and this deficiency can be rescued by expression of wild-type WRN. These data support the hypothesis that p53 can induce apoptosis through the modulation of specific DExH-containing DNA helicases and may have implications for the cancer predisposition observed in WS patients.  (+info)

The Werner syndrome protein is involved in RNA polymerase II transcription. (5/250)

Werner syndrome (WS) is a human progeroid syndrome characterized by the early onset of a large number of clinical features associated with the normal aging process. The complex molecular and cellular phenotypes of WS involve characteristic features of genomic instability and accelerated replicative senescence. The gene involved (WRN) was recently cloned, and its gene product (WRNp) was biochemically characterized as a helicase. Helicases play important roles in a variety of DNA transactions, including DNA replication, transcription, repair, and recombination. We have assessed the role of the WRN gene in transcription by analyzing the efficiency of basal transcription in WS lymphoblastoid cell lines that carry homozygous WRN mutations. Transcription was measured in permeabilized cells by [3H]UTP incorporation and in vitro by using a plasmid template containing the RNA polymerase II (RNA pol II)-dependent adenovirus major late promoter. With both of these approaches, we find that the transcription efficiency in different WS cell lines is reduced to 40-60% of the transcription in cells from normal individuals. This defect can be complemented by the addition of normal cell extracts to the chromatin of WS cells. Addition of purified wild-type WRNp but not mutated WRNp to the in vitro transcription assay markedly stimulates RNA pol II-dependent transcription carried out by nuclear extracts. A nonhelicase domain (a direct repeat of 27 amino acids) also appears to have a role in transcription enhancement, as revealed by a yeast hybrid-protein reporter assay. This is further supported by the lack of stimulation of transcription when mutant WRNp lacking this domain was added to the in vitro assay. We have thus used several approaches to show a role for WRNp in RNA pol II transcription, possibly as a transcriptional activator. A deficit in either global or regional transcription in WS cells may be a primary molecular defect responsible for the WS clinical phenotype.  (+info)

Physical and functional interaction between p53 and the Werner's syndrome protein. (6/250)

Werner's syndrome is a human autosomal recessive disorder leading to premature aging. The mutations responsible for this disorder have recently been localized to a gene (WRN) encoding a protein that possesses DNA helicase and exonuclease activities. Patients carrying WRN gene mutations exhibit an elevated rate of cancer, accompanied by increased genomic instability. The latter features are also characteristic of the loss of function of p53, a tumor suppressor that is very frequently inactivated in human cancer. Moreover, changes in the activity of p53 have been implicated in the onset of cellular replicative senescence. We report here that the WRN protein can form a specific physical interaction with p53. This interaction involves the carboxyl-terminal part of WRN and the extreme carboxyl terminus of p53, a region that plays an important role in regulating the functional state of p53. A small fraction of WRN can be found in complex with endogenous p53 in nontransfected cells. Overexpression of WRN leads to augmented p53-dependent transcriptional activity and induction of p21(Waf1) protein expression. These findings support the existence of a cross-talk between WRN and p53, which may be important for maintaining genomic integrity and for preventing the accumulation of aberrations that can give rise to premature senescence and cancer.  (+info)

Mut-7 of C. elegans, required for transposon silencing and RNA interference, is a homolog of Werner syndrome helicase and RNaseD. (7/250)

While all known natural isolates of C. elegans contain multiple copies of the Tc1 transposon, which are active in the soma, Tc1 transposition is fully silenced in the germline of many strains. We mutagenized one such silenced strain and isolated mutants in which Tc1 had been activated in the germline ("mutators"). Interestingly, many other transposons of unrelated sequence had also become active. Most of these mutants are resistant to RNA interference (RNAi). We found one of the mutated genes, mut-7, to encode a protein with homology to RNaseD. This provides support for the notion that RNAi works by dsRNA-directed, enzymatic RNA degradation. We propose a model in which MUT-7, guided by transposon-derived dsRNA, represses transposition by degrading transposon-specific messengers, thus preventing transposase production and transposition.  (+info)

Requirement of yeast SGS1 and SRS2 genes for replication and transcription. (8/250)

The SGS1 gene of the yeast Saccharomyces cerevisiae encodes a DNA helicase with homology to the human Bloom's syndrome gene BLM and the Werner's syndrome gene WRN. The SRS2 gene of yeast also encodes a DNA helicase. Simultaneous deletion of SGS1 and SRS2 is lethal in yeast. Here, using a conditional mutation of SGS1, it is shown that DNA replication and RNA polymerase I transcription are drastically inhibited in the srs2Delta sgs1-ts strain at the restrictive temperature. Thus, SGS1 and SRS2 function in DNA replication and RNA polymerase I transcription. These functions may contribute to the various defects observed in Werner's and Bloom's syndromes.  (+info)

People with Werner Syndrome typically have a normal intelligence and development during early childhood, but they experience a decline in physical and cognitive abilities as they age. They may also have an increased risk of developing certain cancers, such as lung and ovarian cancer. There is currently no cure for Werner Syndrome, and treatment is focused on managing the symptoms and preventing complications.

The primary diagnostic criteria for Werner Syndrome include:

1. Clinical manifestations of premature aging, such as wrinkled skin, graying hair, and short stature.
2. Normal intelligence and development during early childhood, followed by a decline in physical and cognitive abilities with age.
3. Presence of at least two of the following clinical features:
* Telangiectasias (spider veins)
* Ectropion (outward turning of the eyelids)
* Keratoconjunctivitis sicca (dry eyes)
* Poikilodermatous skin changes (skin thickening and pigmentation)
* Mucosal dryness and atrophy (thinning and drying of the mucous membranes)
4. Presence of a WRN gene mutation, confirmed by genetic testing.

The age of onset and severity of Werner Syndrome can vary widely among affected individuals, but most people experience symptoms within the first few years of life. The disorder is usually diagnosed in childhood or adolescence, based on clinical evaluation and genetic testing.

There is currently no cure for Werner Syndrome, and treatment is focused on managing the symptoms and preventing complications. This may include medication to manage dry eyes and skin, physical therapy to maintain joint mobility, and regular monitoring of the eyes and skin for early detection of any changes or problems. In some cases, surgery may be necessary to correct eye or skin problems.

Werner Syndrome is a rare disorder, and there is ongoing research into its causes and potential treatments. With proper management, many people with Werner Syndrome can lead active and fulfilling lives, despite the challenges posed by the disorder.

Examples of syndromes include:

1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.

Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.

There are several types of premature aging, including:

1. Progeria: This is a rare genetic condition that causes accelerated aging in children, resulting in a shortened life span.
2. Hutchinson-Gilford progeria syndrome: This is the most common form of progeria, which affects approximately 1 in 4 million children worldwide. Children with this condition typically die before reaching their teenage years due to complications such as heart attack or stroke.
3. Wiedemann-Steiner syndrome: This is a rare genetic disorder that causes premature aging, including wrinkled skin, thinning hair, and joint stiffness.
4. Werner syndrome: This is a rare genetic disorder that affects approximately 1 in 250,000 individuals worldwide. It is characterized by premature aging, including grey hair, wrinkled skin, and a high risk of developing cancer and other age-related diseases.
5. Telomere shortening: Telomeres are the protective caps at the end of chromosomes that shorten with each cell division. Premature telomere shortening can lead to accelerated aging and an increased risk of age-related diseases.
6. Chronic stress: Prolonged exposure to chronic stress can lead to premature aging, including changes in the brain, skin, and immune system.
7. Poor nutrition: A diet lacking essential nutrients can lead to premature aging, including vitamin D deficiency, which is associated with an increased risk of osteoporosis and other age-related diseases.
8. Lack of exercise: Physical inactivity can contribute to premature aging, including decreased muscle mass, bone density, and cognitive function.
9. Smoking: Cigarette smoking is a significant risk factor for premature aging, including wrinkles, age spots, and an increased risk of cancer and cardiovascular disease.
10. Alcohol consumption: Excessive alcohol consumption can lead to premature aging, including liver damage, heart disease, and certain types of cancer.

While many of these factors are beyond our control, there are steps we can take to reduce their impact and promote healthy aging. These include maintaining a balanced diet, exercising regularly, getting enough sleep, managing stress, not smoking, and limiting alcohol consumption. Additionally, staying up-to-date on preventative healthcare measures, such as regular check-ups and screenings, can help identify and address any potential health issues before they become more serious.

The main symptoms of progeria include:

1. Rapid growth and development during the first two years of life, followed by slowed growth and loss of fat and muscle mass.
2. A distinctive facial appearance, including a small face, thin nose, and narrow eyes.
3. Wasting of the skin, hair, and joints.
4. Cardiovascular disease, such as hardening of the arteries and heart problems.
5. Osteoporosis and joint degeneration.
6. Respiratory problems, including frequent colds and difficulty breathing.
7. Eye problems, including cataracts and glaucoma.
8. Increased risk of stroke and other cardiovascular complications.

Progeria is a fatal condition, with most children dying from heart disease or stroke before the age of 21. However, some individuals with progeria have been known to live into their 30s or 40s due to advances in medical care and technology. There is currently no cure for progeria, but researchers are working to develop new treatments to slow down the progression of the disease and improve the quality of life for those affected.

Bloom syndrome is a rare genetic disorder that affects approximately 1 in 100,000 individuals worldwide. It is caused by a mutation in the BLM gene, which codes for the Bloom syndrome protein (BLM). This protein plays a crucial role in the repair of DNA double-strand breaks and other types of genetic damage.


Individuals with Bloom syndrome typically have short stature, small head size, and delicate features. They may also experience a range of health problems, including:

1. Increased risk of cancer: People with Bloom syndrome have an increased risk of developing various types of cancer, such as ovarian, breast, skin, and colon cancer.
2. Immune system problems: Individuals with Bloom syndrome may experience immune deficiency and autoimmune disorders, such as allergies and lupus.
3. Infertility: Many people with Bloom syndrome experience infertility or have difficulty conceiving.
4. Developmental delays: Children with Bloom syndrome may experience delayed development, including speech and language difficulties.
5. Skin changes: Individuals with Bloom syndrome may develop skin changes, such as thinning of the skin, easy bruising, and an increased risk of skin cancer.
6. Eye problems: Bloom syndrome can cause a range of eye problems, including cataracts, glaucoma, and detached retinas.
7. Increased risk of infections: People with Bloom syndrome may be more susceptible to infections due to their weakened immune system.
8. Other health problems: Individuals with Bloom syndrome may experience other health issues, such as hearing loss, kidney disease, and gastrointestinal problems.


Bloom syndrome can be diagnosed through a combination of clinical evaluation, family history, and genetic testing. Genetic testing can identify the presence of the BLM mutation that causes the disorder. Prenatal testing is also available for pregnant women who have a family history of Bloom syndrome.


There is no cure for Bloom syndrome, but treatment can help manage the symptoms and prevent complications. Treatment options may include:

1. Skin cancer screening and prevention: Regular skin exams can help detect skin cancer at an early stage, and preventive measures such as avoiding excessive sun exposure and using protective clothing and sunscreen can reduce the risk of skin cancer.
2. Eye care: Regular eye exams can help detect eye problems early, and prompt treatment can prevent vision loss.
3. Immune system support: Individuals with Bloom syndrome may be at increased risk of infections, so it's important to take steps to support the immune system, such as getting vaccinated against common illnesses and practicing good hygiene.
4. Developmental support: Children with Bloom syndrome may require extra support in school and at home to help them reach their full potential.
5. Managing other health problems: Depending on the specific health issues experienced by an individual with Bloom syndrome, treatment may involve medication, lifestyle changes, or other interventions to manage these conditions.


The prognosis for individuals with Bloom syndrome varies depending on the specific health problems they experience. Some individuals may have a relatively mild course of the condition, while others may experience more severe health issues. With appropriate medical care and support, many individuals with Bloom syndrome can lead fulfilling lives. However, the condition can be associated with a shorter life expectancy compared to the general population.

Lifestyle Changes:

There are several lifestyle changes that can help manage the symptoms of Bloom syndrome and improve overall health. These may include:

1. Protecting the skin from the sun: Avoid excessive sun exposure, especially during peak hours, and use protective clothing and sunscreen to prevent skin damage.
2. Eating a healthy diet: A balanced diet that includes plenty of fruits, vegetables, whole grains, and lean protein can help support overall health.
3. Staying hydrated: Drinking plenty of water can help prevent dehydration, which can be a common issue for individuals with Bloom syndrome.
4. Avoiding smoking and excessive alcohol consumption: Both smoking and excessive alcohol consumption can worsen the symptoms of Bloom syndrome and increase the risk of certain health problems.
5. Getting regular exercise: Regular physical activity can help improve overall health and reduce the risk of certain health problems.
6. Managing stress: Stress can exacerbate the symptoms of Bloom syndrome, so it's important to find healthy ways to manage stress, such as through relaxation techniques or therapy.
7. Getting enough sleep: Adequate sleep is essential for overall health and well-being, and can help reduce the risk of certain health problems.
8. Avoiding exposure to toxins: Individuals with Bloom syndrome may be more susceptible to the effects of toxins, so it's important to avoid exposure to chemicals and other toxins whenever possible.
9. Keeping up-to-date on medical care: Regular check-ups with a healthcare provider can help identify any health issues early on and prevent complications.

Support Groups:

There are several support groups and organizations that provide information, resources, and support for individuals with Bloom syndrome and their families. These include:

1. The National Organization for Rare Disorders (NORD) - Provides information and resources on rare diseases, including Bloom syndrome.
2. The Bloom Syndrome Foundation - A non-profit organization dedicated to supporting research and providing information and resources for individuals with Bloom syndrome and their families.
3. The Rare Disease United Foundation - Provides information and resources on rare diseases, including Bloom syndrome, as well as support for individuals and families affected by these conditions.

Online Resources:

There are several online resources available to help individuals with Bloom syndrome and their families learn more about the condition, connect with others, and find support. These include:

1. The National Organization for Rare Disorders (NORD) - Provides information and resources on rare diseases, including Bloom syndrome, as well as a directory of healthcare providers and researchers.
2. The Bloom Syndrome Foundation - Offers information and resources on Bloom syndrome, as well as a registry for individuals with the condition to connect with others and receive updates on research and treatments.
3. Rare Disease United - Provides information and resources on rare diseases, including Bloom syndrome, as well as a directory of support groups and advocacy organizations.
4. The Global Bloom Syndrome Registry - A registry for individuals with Bloom syndrome to connect with others and receive updates on research and treatments.
5. The Bloom Syndrome Community - A Facebook group for individuals with Bloom syndrome and their families to connect, share information, and support one another.

These online resources can provide valuable information and support for individuals with Bloom syndrome and their families. It is important to note that while these resources can be helpful, they should not replace the advice of a qualified healthcare professional.

The main clinical features of Rothmund-Thomson Syndrome include:

1. Congenital anomalies: Individuals with RTS are born with a variety of physical abnormalities such as short stature, microcephaly (small head), and facial dysmorphism (abnormal facial features).
2. Skin abnormalities: The skin is thin, delicate, and susceptible to infections, blistering, and scarring. Individuals with RTS may develop poikiloderma (a condition characterized by irregularly pigmented patches on the skin).
3. Skeletal abnormalities: RTS can cause a range of skeletal defects such as short or missing limbs, joint deformities, and spinal abnormalities.
4. Craniofacial abnormalities: The syndrome can also result in craniofacial abnormalities such as micrognathia (small jaw), protruding eyes, and hearing loss.
5. Developmental delays: Individuals with RTS often experience developmental delays and intellectual disability. They may have difficulty with speech, language, and social interactions.
6. Increased risk of cancer: People with Rothmund-Thomson Syndrome have an increased risk of developing certain types of cancer, particularly osteosarcoma (bone cancer) and rhabdomyosarcoma (soft tissue cancer).
7. Autoimmune disorders: RTS can also lead to autoimmune disorders such as thyroiditis (inflammation of the thyroid gland) and vitiligo (loss of skin pigmentation).
8. Poor immune function: The syndrome can cause poor immune function, making individuals more susceptible to infections and less able to fight them off effectively.
9. Neurological problems: RTS can result in neurological issues such as seizures, tremors, and loss of coordination.
10. Short stature: Adults with Rothmund-Thomson Syndrome often have short stature and may experience delayed or arrested growth.

It's important to note that not all individuals with RTS will experience all of these symptoms, and the severity of the syndrome can vary widely from person to person. Treatment for Rothmund-Thomson Syndrome typically involves a multidisciplinary approach, including medical management, surgical interventions, and supportive care to address the various physical and developmental challenges associated with the condition.

There are several types of genomic instability, including:

1. Chromosomal instability (CIN): This refers to changes in the number or structure of chromosomes, such as aneuploidy (having an abnormal number of chromosomes) or translocations (the movement of genetic material between chromosomes).
2. Point mutations: These are changes in a single base pair in the DNA sequence.
3. Insertions and deletions: These are changes in the number of base pairs in the DNA sequence, resulting in the insertion or deletion of one or more base pairs.
4. Genomic rearrangements: These are changes in the structure of the genome, such as chromosomal breaks and reunions, or the movement of genetic material between chromosomes.

Genomic instability can arise from a variety of sources, including environmental factors, errors during DNA replication and repair, and genetic mutations. It is often associated with cancer, as cancer cells have high levels of genomic instability, which can lead to the development of resistance to chemotherapy and radiation therapy.

Research into genomic instability has led to a greater understanding of the mechanisms underlying cancer and other diseases, and has also spurred the development of new therapeutic strategies, such as targeted therapies and immunotherapies.

In summary, genomic instability is a key feature of cancer cells and is associated with various diseases, including cancer, neurodegenerative disorders, and aging. It can arise from a variety of sources and is the subject of ongoing research in the field of molecular biology.

Down syndrome can be diagnosed before birth through prenatal testing, such as chorionic villus sampling or amniocentesis, or after birth through a blood test. The symptoms of Down syndrome can vary from person to person, but common physical features include:

* A flat face with a short neck and small ears
* A short stature
* A wide, short hands with short fingers
* A small head
* Almond-shaped eyes that are slanted upward
* A single crease in the palm of the hand

People with Down syndrome may also have cognitive delays and intellectual disability, as well as increased risk of certain medical conditions such as heart defects, gastrointestinal problems, and hearing and vision loss.

There is no cure for Down syndrome, but early intervention and proper medical care can greatly improve the quality of life for individuals with the condition. Treatment may include speech and language therapy, occupational therapy, physical therapy, and special education programs. With appropriate support and resources, people with Down syndrome can lead fulfilling and productive lives.

1. Abdominal obesity (excess fat around the waistline)
2. High blood pressure (hypertension)
3. Elevated fasting glucose (high blood sugar)
4. High serum triglycerides (elevated levels of triglycerides in the blood)
5. Low HDL cholesterol (low levels of "good" cholesterol)

Having three or more of these conditions is considered a diagnosis of metabolic syndrome X. It is estimated that approximately 34% of adults in the United States have this syndrome, and it is more common in women than men. Risk factors for developing metabolic syndrome include obesity, lack of physical activity, poor diet, and a family history of type 2 diabetes or CVD.

The term "metabolic syndrome" was first introduced in the medical literature in the late 1980s, and since then, it has been the subject of extensive research. The exact causes of metabolic syndrome are not yet fully understood, but it is believed to be related to insulin resistance, inflammation, and changes in body fat distribution.

Treatment for metabolic syndrome typically involves lifestyle modifications such as weight loss, regular physical activity, and a healthy diet. Medications such as blood pressure-lowering drugs, cholesterol-lowering drugs, and anti-diabetic medications may also be prescribed if necessary. It is important to note that not everyone with metabolic syndrome will develop type 2 diabetes or CVD, but the risk is increased. Therefore, early detection and treatment are crucial in preventing these complications.

... (WS) or Werner's syndrome, also known as "adult progeria", is a rare, autosomal recessive disorder which is ... Werner syndrome is named after the German scientist Otto Werner. He identified the syndrome in four siblings observed with ... Otto Werner was the first to observe Werner syndrome in 1904 as a part of his dissertation research. As a German ... Progeroid syndromes, Syndromes affecting stature, Syndromes affecting bones, Syndromes affecting the nervous system). ...
Werner syndrome is caused by mutations in the WRN gene. More than 20 mutations in the WRN gene are known to cause Werner ... Werner syndrome ATP-dependent helicase, also known as DNA helicase, RecQ-like type 3, is an enzyme that in humans is encoded by ... Werner syndrome ATP-dependent helicase has been shown to interact with: BLM DNA-PKcs, FEN1, Ku70, Ku80, P53, PCNA, TERF2, and ... Lebel M (2001). "Werner syndrome: genetic and molecular basis of a premature aging disorder". Cell. Mol. Life Sci. 58 (7): 857- ...
Some segmental progeroid syndromes, such as Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndromes (RTS) and ... Werner syndrome (WS) Bloom syndrome (BS) Rothmund-Thomson syndrome (RTS) Cockayne syndrome (CS) Xeroderma pigmentosum (XP) ... Examples of PS include Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndrome (RTS), Cockayne syndrome (CS), ... Hutchinson-Gilford progeria syndrome, Werner syndrome, and Cockayne syndrome are the three genetic disorders in which patients ...
Rothmund-Thomson syndrome, Werner syndrome and Xeroderma pigmentosum. Although cancer syndromes exhibit an increased risk of ... Lynch syndrome), Howel-Evans syndrome of esophageal cancer with tylosis, juvenile polyposis syndrome, Li-Fraumeni syndrome, ... Birt-Hogg-Dubé syndrome, Carney syndrome, familial chordoma, Cowden syndrome, dysplastic nevus syndrome with familial melanoma ... Nevoid basal cell carcinoma syndrome, also known as Gorlin syndrome, is an autosomal dominant cancer syndrome in which the risk ...
Werner syndrome, a condition associated with premature aging, causes a "bird-like" appearance due to pinching of the nose. Down ... eds.). Werner Syndrome. GeneReviews®. Seattle, WA: University of Washington. PMID 20301687. Archived from the original on 2017- ... Empty nose syndrome, a nose crippled by excessive resection of the inferior and/or middle turbinates of the nose Dried nasal ... in Kallmann syndrome or Parkinson's disease. A blocked sinus ostium, an opening from a paranasal sinus, will cause fluid to ...
... and Werner syndrome. Horvath published the first article demonstrating that trisomy 21 (Down syndrome) is associated with ... Maierhofer, A (2017). "Accelerated epigenetic aging in Werner syndrome". Aging. 9 (4): 1143-1152. doi:10.18632/aging.101217. ... physical activity and the risks associated with metabolic syndrome. Horvath and Raj proposed an epigenetic clock theory of ... "Accelerated epigenetic aging in Down syndrome". Aging Cell. 14 (3): 491-5. doi:10.1111/acel.12325. PMC 4406678. PMID 25678027. ...
Maierhofer A, Flunkert J, Oshima J, Martin GM, Haaf T, Horvath S (April 2017). "Accelerated epigenetic aging in Werner syndrome ... Adult progeria also known as Werner syndrome is associated with epigenetic age acceleration in blood. Fibroblast samples from ... Down syndrome entails an increased risk of many chronic diseases that are typically associated with older age. The clinical ... Children with a very rare disorder known as syndrome X maintain the façade of persistent toddler-like features while aging from ...
The cell kinetics of Werner's syndrome). Royal Pharmaceutical Society Conference Science Medal for outstanding scientific ... Research interests: progeroid syndromes, resveratrol analogues ('resveralogues') and the phenotype of senescent cells. Trustee ...
"LMNA mutations in atypical Werner's syndrome". Lancet. 362 (9382): 440-5. doi:10.1016/S0140-6736(03)14069-X. PMID 12927431. ... Mutations in lamin A (LMNA) cause Hutchinson-Gilford progeria syndrome, a dramatic form of premature aging. Mouse cells ... 2004). "Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis". Nature ... Rusinal AE, Sinensky MS (2006). "Farnesylated lamins, progeroid syndromes and farnesyl transferase inhibitors". J. Cell Sci. ...
"Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicases". J. Biol. Chem. 277 (43): 41110- ... Bloom syndrome protein is a protein that in humans is encoded by the BLM gene and is not expressed in Bloom syndrome. The Bloom ... and functional interaction between Werner and Bloom syndrome proteins". J. Biol. Chem. 277 (24): 22035-44. doi:10.1074/jbc. ... "Bloom syndrome". Genetics Home Reference. NIH. Retrieved 19 March 2013. De Muyt A, Jessop L, Kolar E, Sourirajan A, Chen J, ...
... and Cockayne syndrome (mean lifespan 13 years). Werner syndrome is due to an inherited defect in an enzyme (a helicase and ... Werner syndrome (WS), a premature aging condition in humans, is caused by a genetic defect in a RecQ helicase that is employed ... Bloom syndrome and Rothmund-Thomson syndrome. In addition to human inherited syndromes, experimental mouse models with genetic ... Harrigan, JA; Wilson, DM; Prasad, R; Opresko, PL; Beck, G; May, A; Wilson, SH; Bohr, VA (Jan 2006). "The Werner syndrome ...
Hutchinson-Gilford progeria syndrome) Rothmund-Thomson syndrome Trichothiodystrophy Werner syndrome Xeroderma pigmentosum Some ... Rossi ML, Ghosh AK, Bohr VA (2010). "Roles of Werner syndrome protein in protection of genome integrity". DNA Repair (Amst.). 9 ... Bohr VA (2005). "Deficient DNA repair in the human progeroid disorder, Werner syndrome". Mutat. Res. 577 (1-2): 252-9. doi: ... Saintigny Y, Makienko K, Swanson C, Emond MJ, Monnat RJ (2002). "Homologous recombination resolution defect in werner syndrome ...
1996). "Positional cloning of the Werner's syndrome gene". Science. 272 (5259): 258-262. Bibcode:1996Sci...272..258Y. doi: ... Werner syndrome) and early onset Alzheimer's disease (presenilin 2). In 1997, Fu returned to academia, taking the position of ... While there, she was part of the team that identified the fragile-X syndrome gene. The gene contains a polymorphic CGG ... This mutational mechanism is now known to cause not only Fragile X syndrome and Myotonic dystrophy, but also Huntington's ...
... "p53 Modulates the exonuclease activity of Werner syndrome protein". The Journal of Biological Chemistry. 276 (37): 35093-102. ... Yu A, Fan HY, Liao D, Bailey AD, Weiner AM (May 2000). "Activation of p53 or loss of the Cockayne syndrome group B repair ... Abramovitch S, Werner H (2003). "Functional and physical interactions between BRCA1 and p53 in transcriptional regulation of ... GeneReviews/NCBI/NIH/UW entry on Li-Fraumeni Syndrome TUMOR PROTEIN p53 @ OMIM p53 restoration of function p53 @ The Atlas of ...
MDPL/MDP, AWS and Werner's syndrome all present with progeria. A first example of germline transmission was observed in a ... POLD1 Ser605del and R507C variants have also been identified in a subset of patients with atypical Werner's syndrome (AWS). ... The WRN gene is mutated in Werner syndrome (an autosomal recessive disorder) leading to accelerated aging and increased genetic ... Kamath-Loeb AS, Shen JC, Schmitt MW, Loeb LA (April 2012). "The Werner syndrome exonuclease facilitates DNA degradation and ...
Werner's syndrome is a genetic disorder that causes premature aging. Patients with Werner's syndrome lack a functional WRN ... Compton SA, Tolun G, Kamath-Loeb AS, Loeb LA, Griffith JD (September 2008). "The Werner syndrome protein binds replication fork ... such as cancer and Werner's Disease. The first theoretical description of cruciform-forming DNA structures was hypothesized in ...
Werner syndrome and pernicious anemia can also cause premature graying. A 2005 uncontrolled study demonstrated that people 50- ... Marie Antoinette syndrome is a proposed phenomenon in which sudden whitening is caused by stress. It has been found that some ... Waardenburg syndrome or a vitamin B12 deficiency. At some point in the human life cycle, cells that are located in the base of ...
Werner syndrome (WS) is a premature aging condition in humans. WS is caused by a genetic defect in a RecQ helicase that is ... Didangelos A, Simper D, Monaco C, Mayr M (May 2009). "Proteomics of acute coronary syndromes". Current Atherosclerosis Reports ...
NCBI: Human Gene Map eMedicine: Progeria (Werner Syndrome) Who Named It? C. W. Otto Werner Genetic Disorders: Werner Syndrome v ... after whom Werner syndrome, a form of progeria, was named. As a medical student in 1903, Werner observed the syndrome in four ... Werner was born in Flensburg, the son of a provincial councillor. He attended school in Kiel and qualified to practice medicine ... Carl Wilhelm Otto Werner (1 February 1879 - 5 June 1936) was a German physician, ...
WRN helicase, which is mutated in Werner Syndrome patients, is required for efficient replication of the telomeric G-strand. ... which is responsible for the heightened cancer incidence in individuals with Werner Syndrome. He went on to show that following ... Karlseder discovered that telomere dysfunction plays a role in Werner Syndrome, a premature aging disease that is associated ... "Telomere dysfunction as a cause of genomic instability in Werner syndrome". Proceedings of the National Academy of Sciences. ...
Werner syndrome is a condition in humans characterized by accelerated aging. It is caused by mutations in the gene WRN that ... November 2019). "Evidence for premature aging in a Drosophila model of Werner syndrome". Experimental Gerontology. 127: 110733 ...
... which causes Werner's Syndrome, the MAPT mutations which cause FTLD-tau type, and subsequently the MAPT association with Guam ... he was the senior author of a Science article locating the gene and mutations responsible for Werner syndrome, a form of ... "Integrated Mapping Analysis of the Werner Syndrome Region of Chromosome 8". Genomics. 23 (1): 100-113. doi:10.1006/geno. ... "Toward localization of the Werner syndrome gene by linkage disequilibrium and ancestral haplotyping: lessons learned from ...
Researchers at INMEGEN also study Werner syndrome and the pulmonary adenocarcinoma. INMEGEN has many investigations related to ... Another study is on the effect of Omega 3 on metabolic syndrome in the Mexican population, specifically on early biomarkers ...
Werner's syndrome is a rare autosomal recessive disorder characterized by premature aging. The protein encoded by this gene ... WRNIP1 has been shown to interact with Werner syndrome ATP-dependent helicase. GRCh38: Ensembl release 89: ENSG00000124535 - ... "A novel protein interacts with the Werner's syndrome gene product physically and functionally". J Biol Chem. 276 (23): 20364-9 ... "Entrez Gene: WRNIP1 Werner helicase interacting protein 1". Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to ...
Futami K, Ishikawa Y, Goto M, Furuichi Y, Sugimoto M (May 2008). "Role of Werner syndrome gene product helicase in ... June 2006). "Epigenetic inactivation of the premature aging Werner syndrome gene in human cancer". Proceedings of the National ... February 2012). "Recapitulation of Werner syndrome sensitivity to camptothecin by limited knockdown of the WRN helicase/ ...
Herlyn-Werner-Wunderlich syndrome is one such syndrome in which unilateral renal agenesis is combined with a blind hemivagina ... Ahmad, Zohra; Goyal, Ankur; Das, Chandan J; Deka, Dipika; Sharma, Raju (2013-01-01). "Herlyn-Werner-Wunderlich syndrome ... Kallmann syndrome, branchio-oto-renal syndrome and others.[citation needed] The prevalence of unilateral renal agenesis in the ... causes of oligohydramnios sequence have been linked to a number of other conditions and syndromes to include Down syndrome, ...
Important highlights include the discovery of the genetic defect causing Werner syndrome and certain familial forms of ... September 1994). "Integrated mapping analysis of the Werner syndrome region of chromosome 8" (PDF). Genomics. 23 (1): 100-13. ...
May 1994). "Evidence against DNA polymerase beta as a candidate gene for Werner syndrome". Human Genetics. 93 (5): 507-12. doi: ...
"Epigenetic inactivation of the premature aging Werner syndrome gene in human cancer". Proceedings of the National Academy of ... lessons from pediatric cancer susceptibility syndromes". Journal of Clinical Oncology. 24 (23): 3799-808. doi:10.1200/JCO. ...
"Epigenetic inactivation of the premature aging Werner syndrome gene in human cancer". Proc. Natl. Acad. Sci. U.S.A. 103 (23): ...
Ausseil J, Loredo-Osti JC, Verner A, et al. (2005). "Localisation of a gene for mucopolysaccharidosis IIIC to the ... Klein U, Kresse H, von Figura K (1978). "Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N- ... 2007). "Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). ... Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, ...
Hitler forced his War Minister, Field Marshal Werner von Blomberg, to resign by using a police dossier that showed that ... Researchers have variously suggested that Hitler suffered from irritable bowel syndrome, skin lesions, irregular heartbeat, ... Army commander Colonel-General Werner von Fritsch was removed after the Schutzstaffel (SS) produced allegations that he had ... ISBN 978-1-60239-178-9. Maser, Werner (1973). Hitler: Legend, Myth, Reality. London: Allen Lane. ISBN 978-0-7139-0473-4. Marrus ...
Severe Acute Respiratory Syndrome-CoV and Middle East Respiratory Syndrome-CoV), hemorrhagic fever viruses (Lassa and Ebola), ... Werner, Dietrich, ed. (2004). Biological Resources and Migration. Springer. p. 363. ISBN 978-3-540-21470-0. Goeijenbier, Marco ... A "Swollen baby syndrome" may occur in newborns, infants and toddlers with pitting edema, abdominal distension and bleeding. ...
Landres PB, Verner J, Thomas JW (1988). "Ecological Uses of Vertebrate Indicator Species: A Critique" (PDF). Conserv. Biol. 2 ( ... Hance, Jeremy (January 19, 2009). "Wildlife trade creating 'empty forest syndrome' across the globe". Mongabay. Rodrigues, Ana ...
Werner Forssmann in 1929, who inserted a catheter into the vein of his own forearm, guided it fluoroscopically into his right ... Acute coronary syndromes: ST elevation MI (STEMI), non-ST Elevation MI (NSTEMI), and unstable angina Evaluation of coronary ...
Werner Doehner, 90, German-born American, last living survivor of the Hindenburg disaster. Ramakant Gundecha, 57, Indian ... Lisa Kindred, 79, American folk musician, POEMS syndrome. Winston Lackin, 64, Surinamese politician, Minister of Foreign ... Karel Werner, 94, Czech-born British philosopher and religious scholar. Yin Xiaowei, 46, Chinese materials scientist. Martin ... Werner 47岁知名材料学者、西工大研究生院常务副院长殷小玮逝世 (in Chinese) 'Young Einstein' Composer Martin Armiger Dead at
James, J; Sutton, LG; Werner, FW; Basu, N; Allison, MA; Palmer, AK (December 2011). "Morphology of the cubital tunnel: an ... Matsuzaki, A (December 2001). "Membranous tissue under the flexor carpi ulnaris muscle as a cause of cubital tunnel syndrome". ... Palmer, BA; Hughes, TB (January 2010). "Cubital tunnel syndrome". Journal of Hand Surgery, American Volume. 35 (1): 153-63. doi ... 4 February 2021). "The prevalence of anconeus epitrochlearis muscle and Osborne's ligament in cubital tunnel syndrome patients ...
Richter, P; J Werner; A Heerlein; A Kraus; H Sauer (1998). "On the validity of the Beck Depression Inventory. A review". ... the prevailing psychoanalytic theory attributed the syndrome to inverted hostility against the self.' By contrast, the BDI was ...
Budd Chiari syndrome) Hypoxic hepatitis Liver failure during pregnancy or Reye syndrome Unknown etiology Goals of MARS Therapy ... Werner, Andreas; Duvar, Sevim; Müthing, Johannes; Büntemeyer, Heino; Lünsdorf, Heinrich; Strauss, Michael; Lehmann, Jürgen ( ... Pierre Versin is one of the pioneers in the study of hepatorenal syndrome in patients with liver impairment. Great efforts have ... 15 mg/dl (255 μmol/L), not responding to standard medical care alter 3 days Renal dysfunction or hepatorenal syndrome. Hepatic ...
In fact the city is so rich in art that some first time visitors experience the Stendhal syndrome as they encounter its art for ... Akron, Ohio: The Werner Company, 1907: p. 675 "Florence , History, Geography, & Culture". Encyclopedia Britannica. Retrieved 3 ...
Proposed minimal diagnostic criteria for myelodysplastic syndromes (MDS) and potential pre-MDS conditions, retrieved 15. April ... Werner; Sperr, Wolfgang R.; Wolf, Dominik (29 August 2019). "Immunotherapy-Based Targeting and Elimination of Leukemic Stem ... Criteria and Global Classification of Mast Cell Disorders with Special Reference to Mast Cell Activation Syndromes: A Consensus ... Systemic Mastocytosis and Myelodysplastic Syndromes. These studies are primarily conducted in the Ludwig Boltzmann Institute ...
Premature aging syndromes including Werner syndrome, Progeria, Ataxia telangiectasia, Ataxia-telangiectasia like disorder, ... Bloom syndrome, Fanconi anemia and Nijmegen breakage syndrome are associated with short telomeres. However, the genes that have ... Cri du chat syndrome (CdCS) is a complex disorder involving the loss of the distal portion of the short arm of chromosome 5. ... 2018). "TA-65, A Telomerase Activator improves Cardiovascular Markers in Patients with Metabolic Syndrome". Current ...
Werner, Frank (August 10, 2006). "Liebeserklärung ans neue Heim" [Declaration of love for a new home]. Onetz (in German). ... "more about nuclear power from the movie The China Syndrome". Cage endorsed Andrew Yang for president during the 2020 election. ... Also in 2009, Cage starred in the film Bad Lieutenant: Port of Call New Orleans, directed by acclaimed German director Werner ...
Werner 1997, p. 753. Leal, Luis (2005). "The Malinche-Llorona Dichotomy: The Origin of a Myth". Feminism, Nation and Myth: La ... implying that she suffers from Empty nest syndrome. La Llorona appears in the Craig of the Creek episode "The Legend of the ... ISBN 978-0-86534-505-8 Werner, Michael S. (1997). Encyclopedia of Mexico: History, Society & Culture - Vol. 1. Chicago: Fitzroy ...
Werner syndrome ATP-dependent helicase. Telomerase is an enzyme that works to create telomeric ends for DNA, and it is thought ... "Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicases". The Journal of Biological ... "Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicases". The Journal of Biological ...
Toxic shock syndrome: Both streptococcal and staphylococcal bacteria can cause this syndrome. Clinical manifestations include ... Ferretti, Joseph; Kohler, Werner (February 2016). "History of Streptococcal Research". Streptococcus Pyogenes: Basic Biology to ... Melish, ME; Glasgow, LA (June 1971). "Staphylococcal scalded skin syndrome: the expanded clinical syndrome". The Journal of ... Staphylococcal scalded skin syndrome: This is a disease that occurs primarily in young children due to a toxin-producing strain ...
Kirby-Jones for Andy Parrino and Andrew Werner. Ross competed for a starting job in 2013 spring training and won the fifth spot ... the remainder of the season with a shoulder injury and underwent surgery to relieve the symptoms of thoracic outlet syndrome in ...
Ernst Werner von Siemens: Dynamo, pointer telegraph that used a needle to point to the right letter, first electric elevator, ... known for developing the Kessler syndrome. Hermann Kemper: Invented the magnetic levitation train. Patent granted in 1934. ... Werner Krüger: Developed the Krueger flap, a lift enhancement device in modern aircraft wings in 1943. Alfred Krupp: Pioneer in ... Werner Forssmann: Performed the first human cardiac catheterisation. Shared the Nobel Prize for Medicine 1956 Joachim Frank: co ...
Kaminetsky, Jed; Werner, Michael; Fontenot, Greg; Wiehle, Ronald D. (June 2013). "Oral enclomiphene citrate stimulates the ... Women with ovarian growths or cysts unrelated to polycystic ovary syndrome. Patients with a history of liver disease. Patients ...
Konietzko-Meier, Dorota; Werner, Jennifer D.; Wintrich, Tanja; Martin Sander, P. (2018-10-31). "A large temnospondyl humerus ... "great expectations syndrome"" (PDF). Acta Palaeontologica Polonica. 57 (4): 681-702. doi:10.4202/app.2011.0058. S2CID 54021858 ...
... of infant respiratory distress syndrome. A funeral mass for the child was held the next day in the private chapel of Cardinal ... African-American inventor Werner Kuhn, 64, Swiss physical chemist Inayatullah Khan Mashriqi, 75, Indian mathematician, logician ...
Volkel H, Scholz M, Link J, Selzle M, Werner P, Tunnemann R, Jung G, Ludolph AC, Reuter A (August 2001). "Superoxide dismutase ... overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways". Human Molecular Genetics. 9 (11): ...
2003). "Discovery of a fusion kinase in EOL-1 cells and idiopathic hypereosinophilic syndrome". Proc. Natl. Acad. Sci. U.S.A. ... Sakashita E, Tatsumi S, Werner D, et al. (2004). "Human RNPS1 and its associated factors: a versatile alternative pre-mRNA ... Cools J, Stover EH, Gilliland DG (2006). "Detection of the FIP1L1-PDGFRA Fusion in Idiopathic Hypereosinophilic Syndrome and ... Helbig G (February 2018). "Imatinib for the treatment of hypereosinophilic syndromes". Expert Review of Clinical Immunology. 14 ...
It is also used in the treatment of polycystic ovary syndrome. It is not associated with weight gain and is taken by mouth. It ... Werner E, Bell J (1922). "The preparation of methylguanidine, and of ββ-dimethylguanidine by the interaction of dicyandiamide, ... Metformin was first described in the scientific literature in 1922, by Emil Werner and James Bell, as a product in the ... It is also used as a second-line agent for infertility in those with polycystic ovary syndrome. The American Diabetes ...
This atrophy results in a smaller hippocampal volume which is also seen in Cushing's syndrome. The higher levels of cortisol in ... Werner A (2006). "A meta-analysis of structural brain abnormalities in PTSD". Neuroscience and Biobehavioral Reviews. 30 (7): ... After treatment with medication to reduce cortisol in Cushing's syndrome, the hippocampal volume is seen to be restored by as ... Cushing's syndrome is usually the result of medications taken for other conditions. Neuronal loss also occurs as a result of ...
Arold ST, Ulmer TS, Mulhern TD, Werner JM, Ladbury JE, Campbell ID, Noble ME (May 2001). "The role of the Src homology 3-Src ... Okabe S, Fukuda S, Broxmeyer HE (July 2002). "Activation of Wiskott-Aldrich syndrome protein and its association with other ...
The compound 13-cis retinoic acid was first studied in the 1960s at Roche Laboratories in Switzerland by Werner Bollag as a ... There are also reports of people developing irritable bowel syndrome (IBS) and worsening of existing IBS. Isotretinoin and ...
Werner H, Lapkina-Gendler L, Laron Z (2017). "Fifty years on: New lessons from the laron syndrome". Israel Medical Association ... Rare syndromes, Syndromes affecting stature, Cell surface receptor deficiencies, Growth hormones, Disorders causing seizures). ... Laron syndrome patients also do not develop acne, except temporarily during treatment with IGF-1 (if performed). Under normal ... Laron+syndrome at the US National Library of Medicine Medical Subject Headings (MeSH) (Use dmy dates from February 2021, ...
Werner syndrome is characterized by the dramatic, rapid appearance of features associated with normal aging. Explore symptoms, ... Werner syndrome. ... Mutations in the WRN gene cause Werner syndrome. The WRN gene provides instructions for producing the Werner protein, which is ... Werner syndrome is estimated to affect 1 in 200,000 individuals in the United States. This syndrome occurs more often in Japan ...
Myelodysplastic Syndrome in a Patient with Werners Syndrome Subject Area: Hematology , Oncology ... Herein we report a case of Werners syndrome with myelodysplastic syndrome, a clonal preleukemic disorder of hemopoietic stem ... Myelodysplastic syndromes, Premature aging, RAEB-t, Werners syndrome ... Werners Syndrome Associated with Malignancies:Five Case Reports with a Survey of Case Histories in Japan Gerontology (April, ...
... known as Hutchinson-Gilford progeria syndrome, or HGPS, for short. The discussion and comments on this post are leading us ... Werner Syndrome - another model for aging. Posted on 13. May 2009 by Vince Giuliano ... There is also a different rare form of progeria known as Werner Syndrome (WS) that is worth looking at for what it might tell ... "Telomerase prevents the accelerated cell ageing of Werner syndrome fibroblasts(ref)." Normal hellicase structures can be very ...
Examples are Ehlers-Danlos syndrome, Werner syndrome, pseudoxanthoma elasticum, and Rothmund-Thompson syndrome. ... Werner syndrome is an inherited disorder of premature aging. Soft tissue calcification may involve the ligaments, tendons, ... Ehlers-Danlos syndrome is a group of inherited disorders of collagen metabolism. Individuals with Ehlers-Danlos type I may ... Uncommon today, this syndrome is caused by excessive consumption of sodium bicarbonate and calcium-containing compounds. The ...
Werner L, Sher JH, Taylor JR, et al. Toxic anterior segment syndrome and possible association with ointment in the anterior ... Mamalis N, Edelhauser HF, Dawson DG, Chew J, LeBoyer RM, Werner L. Toxic anterior segment syndrome. J Cataract Refract Surg ... Toxic Anterior Segment Syndrome After Cataract Surgery --- Maine, 2006. Toxic anterior segment syndrome (TASS), an acute, ... Unal M, Yucel I, Akar Y, Oner A, Altin M. Outbreak of toxic anterior segment syndrome associated with glutaraldehyde after ...
Wermer Syndrome use Multiple Endocrine Neoplasia Type 1 Werner Syndrome Wernicke Aphasia use Aphasia, Wernicke ...
Discovery and characterisation of a novel allosteric inhibitor-binding site in human Bloom syndrome protein. ... Loss of function of WRN underlies the complex progeria Werner Syndrome; defects in BLM underlie Bloom Syndrome, which is ... 2019) Werner syndrome helicase is required for the survival of Cancer cells with microsatellite instability iScience 13:488-497 ... 2019) Werner syndrome helicase is a selective vulnerability of microsatellite instability-high tumor cells eLife 8:e43333. ...
Verner-Morrison syndrome. (Condition). *Verner-Morrison syndrome. (Condition). *Verquvo. (Detailed Drug Info) ...
Accelerated loss of telomeric repeats may not explain accelerated replicative decline of Werner syndrome cells. Human Genetics ...
The effect of resveratrol on the Werner syndrome RecQ helicase gene and telomerase activity. Current Aging Science, 2011, 4(1): ...
Goto M, Miller RW, Ishikawa Y, Sugano H. Excess of rare cancers in Werner syndrome (adult progeria). Cancer Epidermiol ... Hunter syndrome (mucopolysaccharidosis II, MPS II). Hunter syndrome is an X-linked recessive lysosomal storage disorder due to ... Congenital rubella syndrome. The distinct cutaneous lesions of congenital rubella syndrome are the initial "cranberry muffin" ... Syndromes associated with reticulate pigmentation*Naegeli-Franceschetti-Jadassohn syndrome. *Mendes da Costa-van der Valk ...
Robin Williams plays the role of Jack Powell, a boy who ages four times faster than normal as a result of Werner syndrome, a ...
Other progeroid syndromes include Werners syndrome, also known as "adult Progeria" which does not have an onset until the late ... Hutchinson-Gilford Progeria Syndrome is commonly referred to as Progeria or HGPS. It is a genetic condition that occurs in 1 of ... The most common type is known as Hutchinson-Gilford Progeria Syndrome.. What are the symptoms of Progeria?. Children with ...
Li-Fraumeni syndrome, familial adenomatous polyposis, neurofibromatosis, tuberous sclerosis, and Werner syndrome. ...
Herlyn-Werner-Wunderlich syndrome (HWWS) is a rare congenital anomaly of the female urogenital tract that associates Müllerian ... Herlyn-Werner-Wunderlich syndrome: pre- and post-surgical MRI and US findings. ... The morphological substrate of pelvic pain syndrome in deep infiltrating endometriosis was established to be factors that acted ... To study the origin and morphological substrate of pain syndrome in deep infiltrating endometriosisinvolving the bowel. ...
Cummings KC, Mohle-Boetani JC, Werner SB, Vugia DJ. Population-based trends in pediatric hemolytic uremic syndrome in ... Decludt B, Bouvet P, Mariani-Kurkdjian P, Grimont F, Grimont P, Hubert A, Haemolytic uraemic syndrome and Shiga toxin-producing ... Atypical hemolytic-uremic syndrome: a comparison with post-diarrheal disease. J Pediatr. 1996;128:505-11. DOIPubMedGoogle ... The epidemiology and clinical aspects of the hemolytic uremic syndrome in Minnesota. N Engl J Med. 1990;323:1161-7. DOIPubMed ...
New Classification of Herlyn-Werner-Wunderlich Syndrome Chinese Medical Journal, Volume 128, Issue 2,2015, Pages 222-225, doi: ... Misdiagnosis of Liver Infarction after Cesarean Section in a Patient with Antiphospholipid Syndrome During Pregnancy Chinese ...
Li-Fraumeni syndrome, familial adenomatous polyposis, neurofibromatosis, tuberous sclerosis and Werner syndrome. ... Inherited syndromes: A risk of soft tissue sarcoma can be inherited from your parents. Genetic syndromes that increase your ...
The investigation found that a key protein that is lost in Werners syndrome is decreased in smokers with emphysema, and this ...
... and Congenital Rubella Syndrome and Control of Mumps: Recommendations of the Advisory Committee on Immunization Practices (ACIP ... Werner CA. Mumps orchitis and testicular atrophy: I. Occurrence. Ann Intern Med 1950;32:1066. * McGuiness AC, Gall EA. Mumps at ... Guillain-Barre Syndrome (GBS) Cases of GBS occurring after administration of MMR or its component vaccines have been reported, ... Congenital rubella syndrome in the United States, 1970-1985: on the verge of elimination. Am J Epidemiol 1989;129:349-61. * ...
Syndrome, Werner. Syndrome, Werners. Syndrome, Werners. Werners Syndrome. Werners Syndrome. Tree number(s):. C16.320.925. ... Adult Premature Aging Syndrome Adult Progeria Progeria, Adult Syndrome, Werner Syndrome, Werners Syndrome, Werners Werners ... Syndrome de Werner Entry term(s):. Adult Premature Aging Syndrome. Adult Progeria. Progeria, Adult. ... Werner Syndrome - Preferred Concept UI. M0022920. Scope note. An autosomal recessive disorder that causes premature aging in ...
Werner syndrome, and nevoid basal cell carcinoma syndrome. Other risk factors for soft tissue sarcomas include past treatment ... and Werner syndrome.. Soft tissue sarcomas form in cartilage, fat, muscle, blood vessels, tendons, nerves, and around joints. ...
Werner Syndrome: autosomal recessive disorder presenting with pigmented skin and indurated plaques, osteoporosis, muscle ... Different skin conditions contraindicated for facelift- ehlers danlos, progeria, elastoderma, werner syndrome (cutis laxa is ... Frey Syndrome: sympathetic reinnervation of facial skin flap after division causing gustatory sweating ... Progeria: (Hutchinson Gilford Syndrome) autosomal recessive- present with premature aging, lax skin, growth retardation, ...
Research throws light on the cause of Blooms and Werners syndromes, which are caused by mutations in DNA helicase. Data ...
Stem cell therapy for skin regeneration using mesenchymal stem cells derived from the progeroid Werner syndrome-specific iPS ... WRN protein as a novel erythroblast immunohistochemical marker with applications for the diagnosis of Werner syndrome [iPGell] ... cDNA microarray analysis identifies NR4A2 as a novel molecule involved in the pathogenesis of Sjögrens syndrome. H. Takahashi ... Anti-Ro/SSA Antibodies May Be Responsible for Cerebellar Degeneration in Sjogrens Syndrome. Syuichi Tetsuka, Tomohiro Suzuki, ...
Molecular biology of aging, cell senescence, Werner syndrome, telomeres,. recombination, G-quadruplexes, neurodegeneration, ...
Berardinelli-Seip syndrome), lamin A/C (Dunnigan syndrome), and Alstrom syndrome gene. Fibroblast growth factor defects include ... and acanthosis nigricans syndrome (HAIR-AN syndrome). This syndrome is often familial, affecting primarily young women ( ... acanthosis nigricans has been associated with numerous syndromes (see the Table in Pathophysiology). The type A syndrome and ... 12] Acanthosis nigricans has been shown to be a reliable early marker for metabolic syndrome in pediatric patients. [13, 14] ...
Human Werner syndrome (WS) is an autosomal recessive progeria disease. A mouse model of WS manifests the disease through ... The Distinct Function of p21Waf1/Cip1 With p16Ink4a in Modulating Aging Phenotypes of Werner Syndrome by Affecting Tissue ... Coronavirus disease 2019 (COVID-19) caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is spreading ...
  • Kudlow BA, Kennedy BK, Monnat RJ Jr. Werner and Hutchinson-Gilford progeria syndromes: mechanistic basis of human progeroid diseases. (
  • My last major post traced developments related to a form of progeria (premature aging) known as Hutchinson-Gilford progeria syndrome , or HGPS , for short. (
  • There is also a different rare form of progeria known as Werner Syndrome (WS) that is worth looking at for what it might tell us about normal aging. (
  • 4. Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review. (
  • 5. Nailfold scleroderma-like capillary abnormalities in Werner syndrome (adult progeria). (
  • Werners syndrom ble opprinnelig beskrevet av den tyske medisinstudenten Otto Werner (1) og omtales ofte som voksen-progeria. (
  • Robin Williams plays the role of Jack Powell, a boy who ages four times faster than normal as a result of Werner syndrome, a form of progeria. (
  • Hutchinson-Gilford Progeria Syndrome is commonly referred to as Progeria or HGPS . (
  • The most common type is known as Hutchinson-Gilford Progeria Syndrome. (
  • Other progeroid syndromes include Werner's syndrome, also known as "adult Progeria" which does not have an onset until the late teen years, with a life span into the 40s and 50s, and mandibulofacial dysplasia. (
  • Correction of proliferation and drug sensitivity defects in the progeroid Werner's Syndrome by Holliday junction resolution. (
  • The progeroid Werner's syndrome (WS) represents the best current model of human aging. (
  • 15. [Atypical Werner syndrome: Atypical progeroid syndrome: A case report]. (
  • Progeroid syndromes a. (
  • Hutchinson-Gilford syndrome is an even rarer condition, affecting 1 in 8 million babies . (
  • The average life expectancy for children living with Hutchinson-Gilford syndrome is 13 years . (
  • Werner's syndrome is a relatively rare autosomal recessive disorder characterized by several features generally associated with aging. (
  • Herein we report a case of Werner's syndrome with myelodysplastic syndrome, a clonal preleukemic disorder of hemopoietic stem cells. (
  • 2. Werner's syndrome: a quite rare disease for differential diagnosis of scleroderma. (
  • 10. Werner's syndrome may be lost in the shadow of the scleroderma. (
  • 11. Werner's syndrome: from clinics to genetics. (
  • 13. Genetic analyses of two cases of Werner's syndrome. (
  • 14. [A female patient with Werner's syndrome]. (
  • Werner's Syndrome and Human Aging, Vol. 190, Advances in Experimental Medicine and Biology. (
  • The net metabolic outcome in patients of diabetes with a syndrome or a condition (e.g., a with secondary diabetes thus depends on the direct or number of genetic syndromes). (
  • Introduction: Werner syndrome (WS) is an autosomal recessive disease characterized by premature aging, skin changes, gray hair, alopecia, muscle atrophy, osteoporosis, and cataracts and has a high frequency of association with rare neoplasms. (
  • Werner syndrome (WS) is a rare autosomal recessive genetic instability/cancer predisposition disorder that displays many symptoms of premature aging. (
  • Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer predisposition. (
  • The diagnosis of Werner syndrome is established in a proband with the following cardinal signs: bilateral ocular cataracts, premature graying and/or thinning of scalp hair, characteristic dermatologic pathology, and short stature. (
  • The DNA Helicase Section was the first to discover a small molecule inhibitor of the WRN helicase, defective in the premature aging disease Werner syndrome. (
  • Mutations in WRN lead to premature aging, known as Werner syndrome (WS). (
  • and defects in RECQ4 are associated with Rothmund-Thompson syndrome, which displays growth retardation, skeletal abnormalities and premature ageing. (
  • Mutations in the WRN gene cause Werner syndrome. (
  • Mutations in the WRN gene often lead to the production of an abnormally short, nonfunctional Werner protein. (
  • Researchers do not fully understand how WRN mutations cause the signs and symptoms of Werner syndrome. (
  • 17. Werner syndrome and mutations of the WRN and LMNA genes in France. (
  • These issues include the genetic risks for Ewing's sarcoma and liposarcoma , the genetic variants that predict response to sarcoma treatments, and the genetics of sarcoma predisposition syndromes . (
  • Maierhofer A, Flunkert J, Oshima J, Martin GM, Poot M, Nanda I, Dittrich M, Muller T, Haaf T. Epigenetic signatures of Werner syndrome occur early in life and are distinct from normal epigenetic aging processes. (
  • Aggarwal M, Sommers JA, Shoemaker RH, Brosh RM Jr., Inhibition of helicase activity by a small molecule impairs Werner syndrome helicase (WRN) function in the cellular response to DNA damage or replication stress. (
  • BLM (Bloom syndrome protein) is a RECQ-family helicase involved in the dissolution of complex DNA structures and repair intermediates. (
  • Mitochondrial tRNA gene mutation syndromes f. (
  • This syndrome is classified in the group of chromosome instability syndromes and there is an increased incidence of neoplasia. (
  • Glucocorticoid excess (Cushing's syndrome) dysplasia, dystrophic nails) c. (
  • Jan Karlseder of the Salk Institute in La Jolla, California, another NIH-funded scientist, has found that people with Werner syndrome sometimes have missing telomeres or parts of one chromosome stuck to another. (
  • Lauper JM, Krause A, Vaughan TL, Monnat RJ Jr. Spectrum and risk of neoplasia in Werner syndrome: a systematic review. (
  • Some researchers highlight the roles of cell senescence and telomeres in WS: "Telomerase prevents the accelerated cell ageing of Werner syndrome fibroblasts( ref ). (
  • This work is the first to demonstrate that Holliday junction accumulation in primary Werner syndrome fibroblasts results in their poor proliferative capacity, and to rescue WS hypersensitivity to camptothecin and 4NQO by Holliday junction resolution. (
  • 6. Severe metabolic disorders coexisting with Werner syndrome: a case report. (
  • 16. A case of Werner syndrome without metabolic abnormality: implications for the early pathophysiology. (
  • The WRN gene provides instructions for producing the Werner protein, which is thought to perform several tasks related to the maintenance and repair of DNA. (
  • Evidence also suggests that the altered protein is broken down more quickly in the cell than the normal Werner protein. (
  • Cells with an altered Werner protein may divide more slowly or stop dividing earlier than normal, causing growth problems. (
  • Lee JW, Harrigan J, Opresko PL, Bohr VA. Pathways and functions of the Werner syndrome protein. (
  • His graduate thesis focused on the nuclear protein Werner (WRN) and autophagy. (
  • Hematologic malignancies associated with this syndrome are, however, unusual. (
  • Furthermore, the same mutation can also cause different laminopathy syndromes even within the same family. (
  • 19. Uncommon cause of cirrhosis-A case of Werner syndrome with a novel WRN mutation. (
  • Li-Fraumeni syndrome (TP53 mutation). (
  • Gardner syndrome (APC mutation). (
  • Our discovery of the dysregulated neurodevelopmental pathway that underlies LINKED syndrome was only possible through the teamwork of geneticists, developmental biologists, and biochemists from NIH," said Achim Werner, PhD, an NIDCR intramural investigator and lead author. (
  • The parents of an individual with Werner syndrome each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. (
  • Named linkage-specific-deubiquitylation-deficiency-induced embryonic defects syndrome (LINKED), it is caused by a mutated version of the OTUD5 gene, which interferes with key molecular steps in embryo development. (
  • Werner Syndrome: Clinical Features, Pathogenesis and Potential Therapeutic Interventions. (
  • For example, regarding study of a mouse model of WS the authors write "Recent studies of the telomerase-Werner double null mouse link telomere dysfunction to accelerated aging and tumorigenesis in the setting of Werner deficiency. (
  • When Karlseder gave extra telomerase to cells from a person with Werner syndrome, they suffered less DNA damage than cells without extra telomerase. (
  • The syndrome typically develops within 24 hours after surgery and is characterized by corneal edema and accumulation of white cells in the anterior chamber of the eye. (
  • Severe to extreme insulin resistance syndromes b. (
  • 9. General anesthesia for old Werner syndrome patient: a case report. (
  • Werner syndrome is characterized by the dramatic, rapid appearance of features associated with normal aging. (
  • For example, in Werner syndrome, people start aging during their 20s. (
  • Werner Syndrome, aging and cancer. (
  • Diarrhea-associated hemolytic uremic syndrome (HUS) is a major cause of acute renal failure in children ( 1 ). (
  • La culture de type classique a permis d'identifier Neissera meningitidis chez 37 (18,9 %) des 196 patients ayant des symptômes et des signes cliniques de méningite, ce qui a ensuite été confirmé par réaction en chaîne par polymérase. (
  • Escherichia coli O157:H7 was found in 63% of samples cultured from hemolytic uremic syndrome patients, and samples were more likely to be positive when collected early in illness. (
  • 12. Werner syndrome presenting as early-onset diabetes: A case report. (
  • 1. A rare syndrome mimicking scleroderma: Werner syndrome. (
  • Werner O. On cataract in conjunction with scleroderma (translated by H. Hoehn) In: Salk D, Fujiwara Y, Martin GM, editors. (
  • Achim Werner, NIDCR principal investigator, and David Beck, clinical fellow, NHGRI, discuss how their collaborative research led to discovery of a rare developmental disease that affects the brain and craniofacial skeleton. (
  • Individuals with Werner syndrome develop normally until the end of the first decade. (
  • the mean age of death in individuals with Werner syndrome is 54 years. (
  • Children with this syndrome don't grow as quickly as others in their age group. (
  • Werner syndrome is estimated to affect 1 in 200,000 individuals in the United States. (
  • Many people with Werner syndrome have thin arms and legs and a thick trunk due to abnormal fat deposition. (
  • People with Werner syndrome usually live into their late forties or early fifties. (
  • This syndrome occurs more often in Japan, affecting 1 in 20,000 to 1 in 40,000 people. (
  • Werner syndrome affects 1 in 1 million people . (
  • [3] Persistent cutis marmorata, or the one which recurs until early childhood, is associated with cretinism and forms a part of various inherited syndromes [Table 1] . (