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1 Hutchinson-Gilford Progeria Syndrome - NORD (National ...
https://rarediseases.org/rare-diseases/hutchinson-gilford-progeria/
Progeria is caused by a change (mutation) in the LMNA gene that codes for the lamin A protein. The lamin A protein is the scaffolding that holds the nucleus of ...
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2 Progeria: Symptoms, Tests, Treatment and Prevention
https://my.clevelandclinic.org/health/diseases/17850-progeria
Progeria is caused by a mutation (change) in the lamin A (LMNA) gene. This gene makes a protein that holds the nucleus of a cell together.
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3 Progeria - Symptoms and causes - Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/progeria/symptoms-causes/syc-20356038
Progeria is an extremely rare, progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life.
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4 Progeria - an overview | ScienceDirect Topics
https://www.sciencedirect.com/topics/pharmacology-toxicology-and-pharmaceutical-science/progeria
Progeria is almost always a sporadic autosomal dominant disease. There are 2 documented sibling occurrences, both presumably stemming from parental mosaicism, ...
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5 Hutchinson-Gilford Progeria - Medscape Reference
https://emedicine.medscape.com/article/1117344-overview
HGPS is characterized by signs of premature aging most notable in the skin, cardiovascular system, and musculoskeletal systems. HGPS is caused ...
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6 Werner Syndrome | Cancer.Net
https://www.cancer.net/cancer-types/werner-syndrome
Werner syndrome, also called progeria, is a hereditary condition associated ... When both parents are carriers of a recessive gene mutation, there is a 25% ...
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7 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS ...
https://www.omim.org/entry/176670
A subset of patients with heterozygous mutations in the LMNA gene and a phenotype similar to HGPS have shown onset of the disorder in late childhood or in the ...
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8 Homozygous missense mutation in the lamin A/C gene ...
https://jmg.bmj.com/content/41/8/609
Besides HGPS, germline mutations in LMNA have been shown to cause seven phenotypically different disorders, inherited in an autosomal dominant and/or recessive ...
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9 Werner syndrome - UpToDate
https://www.uptodate.com/contents/werner-syndrome
Werner syndrome (WS; MIM #277700), also known as adult progeria, is a rare, autosomal recessive, progeroid syndrome caused by ...
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10 Werner and Hutchinson–Gilford progeria syndromes
https://depts.washington.edu/monnatws/pdf/2007_Kudlow.pdf
carriers of single mutant copies of the WRN gene13–15. However, there ... The locations and molecular types of 58 mutations in the WRN gene that have been.
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11 CRISPR Base Editors Offer First One-Time Treatment for the ...
https://crisprmedicinenews.com/news/crispr-base-editors-offer-first-one-time-treatment-for-the-lethal-premature-ageing-disease-progeria/
The Progeria Research Foundation estimates that there are only about 350 to 400 Progeria patients alive — worldwide — at any given time, as the ...
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12 Hutchinson-Gilford Progeria Syndrome - IntechOpen
https://www.intechopen.com/chapters/41856
Approximately 90% of HGPS patients have an identical mutation in paternal allele of the LMNA gene – a substitution of cytosine to thymine at nucleotide 1824, c.
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13 Speeding up the clock: The past, present and future of progeria
https://onlinelibrary.wiley.com/doi/10.1111/dgd.12251
The most well-known progeroid syndromes include Hutchinson-Gilford Progeria Syndrome (HGPS) and Werner Syndrome (WS). While HGPS and WS are rare ...
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14 Progeria and Progeroid Syndromes Panel - Blueprint Genetics
https://blueprintgenetics.com/tests/panels/dermatology/progeria-and-progeroid-syndromes-panel/?pdf
lipodystrophy, cutis laxa and progeroid type Ehlers-Danlos syndrome among some ... Genes in the Progeria and Progeroid Syndromes Panel and their clinical ...
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15 Adult progeria - Orphanet
https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=960&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=902&Disease(s)/group%20of%20diseases=Adult-progeria&title=Adult-progeria&search=Disease_Search_Simple
Type 2 diabetes mellitus can also share similarities with WS. Genetic counseling. WS is inherited in an autosomal recessive manner. Once a patient is diagnosed ...
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16 A novel homozygous p.Arg527Leu LMNA mutation in ... - Nature
https://www.nature.com/articles/ejhg201277
by M Al-Haggar · 2012 · Cited by 35 —
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17 Mandibuloacral dysplasia type A-associated progeria caused ...
https://bmcpediatr.biomedcentral.com/articles/10.1186/1471-2431-14-256
MADA with partial lipodystrophy, more marked acral, can be caused by homozygous or compound heterozygous mutation in the gene encoding lamin A ...
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18 Progeria: Translational insights from cell biology
https://rupress.org/jcb/article/199/1/9/37157/Progeria-Translational-insights-from-cell
The splice site activated in HGPS to create progerin is actually used at a low level in normal cells, and becomes more active as cell senescence ...
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19 PROGERIA - Carly Cares
http://teamcarlyq.com/progeria/
The condition was later named Hutchinson–Gilford progeria syndrome. Unlike many genetic mutations, progeria isn't passed down in families. Rather, the gene ...
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20 Patau's syndrome - NHS
https://www.nhs.uk/conditions/pataus-syndrome/
An error occurs when the cells divide, resulting in an additional copy, or part of a copy, of chromosome 13, which severely affects the baby's development in ...
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21 Progeria: Model Organisms | SpringerLink
https://link.springer.com/10.1007/978-3-319-69892-2_723-1
The classical form of the syndrome is caused by a dominant mutation of LMNA ... and small external ears in heterozygotes, while it is lethal in homozygosis.
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22 Premature aging syndromes (progeria) | DermNet
https://dermnetnz.org/topics/premature-ageing-syndromes-progeria
Hutchinson-Gilford syndrome can be autosomal recessive or autosomal dominant. Autosomal dominant disorders are passed on by one parent, and up to 1 in 2 ...
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23 progeria mutation reveals: Topics by Science.gov
https://www.science.gov/topicpages/p/progeria+mutation+reveals.html
Hutchinson-Gilford progeria syndrome is a rare congenital disease ... The present results indicate that the monkey suffers from a kind of progeria that is ...
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24 Werner syndrome | CTCA
https://www.cancercenter.com/risk-factors/werner-syndrome
Werner's syndrome; Adult progeria; Adult premature aging syndrome; WS ... Type 2 diabetes, which usually doesn't develop in non-WS patients until their 50s ...
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25 Progressive vascular smooth muscle cell defects in a mouse ...
https://www.pnas.org/content/103/9/3250
We have created a mouse model for progeria by generating transgenics carrying a human bacterial artificial chromosome that harbors the common HGPS mutation.
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26 Full article: Progeria: a perspective on potential drug targets ...
https://www.tandfonline.com/doi/full/10.1080/14728222.2022.2078699
The HGPS mutation activates the use of a cryptic splice donor site in exon 11, generating an aberrant lamin A variant called progerin that lacks 50 amino acids ...
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27 Progeria - DoveMed
https://www.dovemed.com/diseases-conditions/progeria/
Unlike many genetic conditions, Progeria is not passed down in a family. This means that neither parent is a carrier of the gene mutation; ...
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28 Hutchinson-Gilford progeria syndrome - Genetics - MedlinePlus
https://medlineplus.gov/genetics/condition/hutchinson-gilford-progeria-syndrome/
Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood.
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29 Human Disease Model Report: Hutchinson-Gilford progeria ...
https://flybase.org/reports/FBhh0000176.html
The human gene implicated in this disease is lamin A/C (LMNA), which encodes an intermediate filament protein that is a component of the nuclear lamina. There ...
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30 progeria syndrome oral: Topics by WorldWideScience.org
https://worldwidescience.org/topicpages/p/progeria+syndrome+oral.html
Progerin, an altered form of lamin A, has been identified as the cause of premature aging in Hutchinson-Gilford Progeria Syndrome (HGPS), ...
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31 Compound heterozygosity for mutations in LMNA causes a ...
https://academic.oup.com/hmg/article/15/16/2509/645147
T528M and p.M540T) in LMNA. Both mutations affect a conserved region within the C-terminal globular domain of A-type lamins, defining a progeria hot spot. The ...
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32 Mutations involved in premature-ageing syndromes - TACG
https://www.dovepress.com/mutations-involved-in-premature-ageing-syndromes-peer-reviewed-fulltext-article-TACG
Hutchinson–Gilford progeria syndrome (HGPS) and Werner syndrome (WS) are two of the best-characterized progeroid syndromes referred to as ...
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33 and A/C-Related Hutchinson-Gilford Progeria Syndrome (HGPS)
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0021433
The fact that not only pre-lamin A accumulation but also mutations affecting both A-type lamins can result in progeroid disease points to common ...
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34 Inherited Disorders in Cats - International Cat Care
https://icatcare.org/advice/inherited-disorders-in-cats/
With this type of disease, there are no unaffected 'carrier' cats – all cats with an abnormal gene will be clinically affected. Cats with PKD ...
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35 Hutchinson-Gilford Progeria Syndrome—Current Status and ...
https://www.mdpi.com/2073-4409/8/2/88/htm
The vast majority of autosomal dominant type of the progeric laminopathies arise from the so-called “classical” mutation in the LMNA gene—this mutation causes ...
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36 Hutchinson-Gilford Progeria Syndrome - Abstract - Europe PMC
https://europepmc.org/article/nbk/nbk1121
The diagnosis of classic or nonclassic genotype HGPS is established in a proband with characteristic clinical features, along with identification of a ...
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37 Isoprenylcysteine Carboxylmethyltransferase-Based Therapy ...
https://pubs.acs.org/doi/10.1021/acscentsci.0c01698
Hutchinson–Gilford progeria syndrome (HGPS, progeria) is a rare genetic disease characterized by premature aging and death in childhood for ...
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38 Progeria | Science-Based Medicine
https://sciencebasedmedicine.org/progeria/
Hutchinson-Gilford progeria syndrome is rare. The Progeria Research Foundation has been searching for undiagnosed cases. It has identified 179 ...
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39 Targeted transgenic expression of the mutation causing ...
https://journals.biologists.com/Toolbox/DownloadCombinedArticleAndSupplmentPdf?resourceId=30473&multimediaId=1501898&pdfUrl=%2Fcob%2Fcontent_public%2Fjournal%2Fjcs%2F121%2F7%2F10.1242_jcs.022913%2F3%2F969.pdf
Hutchinson-Gilford progeria syndrome (HGPS, progeria) is ... anagen phase is shown in a section from dorsal skin of FVB/N wild-type mice.
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40 (PDF) Hutchinson-Gilford Progeria Syndrome: A Premature ...
https://www.researchgate.net/publication/318049941_Hutchinson-Gilford_Progeria_Syndrome_A_Premature_Aging_Disease
Lmna encodes lamins A and C, and the A-type lamins have important structural function in the nuclear envelope. The most common type of HGPS ...
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41 Mandibuloacral dysplasia type A-associated progeria caused ...
https://d-nb.info/1111246572/34
Three genes mutations including LMNA, ZMPSTE24 and BANF1 were tested in the family. LMNA gene sequencing revealed a homozygous missense mutation ...
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42 Mandibuloacral Dysplasia Caused by LMNA Mutations and ...
https://www.hindawi.com/journals/crig/2014/508231/
Hutchinson-Gilford Progeria Syndrome (HGPS) is characterized by the clinical features of accelerated aging in childhood. Both MAD and HGPS can be caused by ...
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43 Sanfilippo Syndrome (for Parents) - Nemours KidsHealth
https://kidshealth.org/en/parents/sanfilippo-syndrome.html
A family history increases the risk for Sanfilippo syndrome, which affects about 1 in 70,000 births. The condition is also called mucopolysaccharidosis type ...
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44 The Disorder That Makes One Age 7 Times Faster
https://www.sciencerepository.org/the-disorder-that-makes-one-age-7-times-faster
Progeria is a rare genetic disorder that occurs in 1 in 4 million births, which causes children to age prematurely. All progeria patients ...
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45 Progeria - Types, Symptoms, Causes, Diagnosis, and Treatment
https://www.icliniq.com/articles/genetic-disorders/progeria
Hutchinson-Gilford progeria syndrome (HGPS) is the classic type of progeria caused by a mutation in the lamin A (LMNA) gene.
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46 What Parents Need to Know About Genetic Carrier Screening
https://www.whattoexpect.com/getting-pregnant/health-and-wellness/carrier-genetic-screenings/
Just about everyone carries a gene for at least one genetic disorder — even if it has never shown up in a family history. If you have a mutation ...
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47 化学/材料, 物化类期刊, - X-MOL
https://www.x-mol.com/paper/chem/tag/10
Next to the type of the building block core, bonding directionality, ... Progeria patients show a point mutation in the lamin A/C gene (LMNA), ...
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48 Swaiman's Pediatric Neurology - E-Book: Principles and Practice
https://books.google.com/books?id=bonlLHarTFAC&pg=PA390&lpg=PA390&dq=are+there+carrier+forms+of+progeria&source=bl&ots=PgL0uecAi4&sig=ACfU3U0okUwmJnU8aB-S0TsYDPOgTCOaYQ&hl=en&sa=X&ved=2ahUKEwi7odSawcv7AhVxElkFHbtRCfsQ6AF6BQjjARAD
35-1 Early steps in N-linked glycan synthesis. ... A rare form of progeria results from defects in xylose (Xyl)-based glycans, O-Xyl, which initiates the ...
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49 The Encyclopedia of Genetic Disorders and Birth Defects
https://books.google.com/books?id=kXaMjwItP0oC&pg=PA390&lpg=PA390&dq=are+there+carrier+forms+of+progeria&source=bl&ots=FzdG978tQv&sig=ACfU3U3ONmkXlxvVITxBJ-pWXmGHSDhjrQ&hl=en&sa=X&ved=2ahUKEwi7odSawcv7AhVxElkFHbtRCfsQ6AF6BQjMARAD
the ARSE GENE cause the X-linked form of chondrodysplasia punctata. ... Currently, there is no method to identify CARRIERS or for PRENATAL DIAGNOSIS of this ...
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50 Permeability of Biological Membranes - Page 44 - Google Books Result
https://books.google.com/books?id=EZCRCwAAQBAJ&pg=PA44&lpg=PA44&dq=are+there+carrier+forms+of+progeria&source=bl&ots=qQxIcrWz3J&sig=ACfU3U0jv355UcOINOV4nYL-Ricu3XkNBw&hl=en&sa=X&ved=2ahUKEwi7odSawcv7AhVxElkFHbtRCfsQ6AF6BQjaARAD
The cell size and form in these cells are protected by the cell wall. ... membrane and causes the premature aging disorder, progeria (Gilford and Shepherd ...
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