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a silent mutation of the LMNA gene encoding(passive) is caused by3879 - 3893 Hutchinson - Gilford progeria syndrome ( HGPS
genetic mutation in the lamin A ( LMNA ) gene(passive) is caused byHutchinson - Gilford progeria syndrome ( HGPS
a genetic mutation in the LMNA gene(passive) is caused byHutchinson - Gilford Progeria syndrome ( progeria
Zhongjun Zhou A de novo G608 G mutation in LMNA geneleadsto Hutchinson - Gilford progeria syndrome
title = " A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA genecausesHutchinson - Gilford progeria syndrome ( HGPS
a single mutation in the LMNA gene that encodes the lamin(passive) is caused byHutchinson - Gilford Progeria Syndrome ( HGPS
A specific point mutation in the LMNA gene creates a truncated prelamin A termed progerincausingHutchinson - Gilford progeria syndrome ( HGPS
a point mutation in the LMNA gene that encodes two of the major components of the nuclear lamina(passive) caused bythe Hutchinson – Gilford progeria syndrome ( HGPS )
a point mutation in the LMNA gene ... resulting in production of a truncated farnesylated - prelamin A protein ( progerin(passive) is caused byHutchinson - Gilford progeria syndrome ( HGPS
a mutation of the LMNA gene that leads to an aberrant Lamin A protein named progerin(passive) is caused byHutchinson - Gilford progeria syndrome
a mutation in the LMNA gene , which normally produces lamins A and C through alternative splicing(passive) is caused byThe Hutchinson – Gilford progeria syndrome ( HGPS
a point mutation in the LMNA gene that activates a cryptic donor splice site and yields a truncated form of prelamin A called progerin(passive) is caused byHutchinson - Gilford progeria syndrome ( HGPS
mutation in the lamin A protein(passive) is caused byHutchinson - Gilford Progeria Syndrome ( HGPS
Lamins A / C ... a single heterozygous mutationcausesHutchinson - Gilford progeria syndrome
a mutation in the lamin A gene , which results in the production of an aberrant protein , progerin(passive) is caused byProgeria , also known as Hutchinson - Gilford Progeria Syndrome
progerin ( a mutant lamin AcausesHutchinson - Gilford progeria syndrome
several different mutations in the lamin A gene(passive) is caused byHutchinson - Gilford Progeria Syndrome
a single point mutation in the gene encoding lamin A , which forms a protein scaffold on the inner edge of the nucleus that helps maintain chromatin structure and organize nuclear processes such as RNA and DNA synthesis(passive) is caused byHutchinson - Gilford Progeria Syndrome
a de novo heterozygous mutation on LMNA gene that leads to accumulation of progerin , a mutant form of prelamin A. HGPS skin fibroblasts(passive) is caused byHutchinson - Gilford Progeria Syndrome ( HGPS
mutations in the LMNA gene , loss of adipose tissue(passive) are caused byHutchinson - Gilford progeria syndrome
LMNA gene mutations(passive) is caused byHutchinson - Gilford progeria syndrome
The E145 K mutation in lamin AcausesHutchinson - Gilford progeria syndrome ( HGPS
de novo mutations that occurs in a gene that encodes lamin A. Lamin A is made but is not processed properly(passive) caused byHutchinson - Gilford Progeria syndrome
mutations in LMNA gene that result in the production of an abnormal form of lamin A termed progerin(passive) is caused byHutchinson Gilford progeria syndrome
Accordingly , mutations in the LMNA gene and functionally related genes have been describedto causeHGPS ( Hutchinson - Gilford progeria syndrome
the mutant protein progerincausesthe Hutchinson Gilford progeria syndrome
mutations in the lamin A gene , which results in the production and accumulation of a mutant prelamin(passive) is caused byHutchinson - Gilford progeria syndrome ( HGPS
expression of mutant lamin - A , the moleculecausesHutchinson - Gilford Progeria Syndrome ( HGPS
mutations in the LMNA gene that lead to the production of progerin , an abnormal protein that retains a toxic farnesyl modification(passive) is caused byHutchinson - Gilford progeria syndrome ( HGPS
a de novo mutation in the lamin A / C gene ( LMNA ) that activates a cryptic splice site , producing an abnormal lamin(passive) is most typically caused byHutchinson - Gilford progeria syndrome
the discovery of the genetic mutationscauseHutchinson - Gilford progeria syndrome
a recurrent de novo synonymous LMNA mutation resulting in aberrant splicing and generation of a mutant product called progerin(passive) caused byHutchinson - Gilford progeria syndrome ( HGPS
Fujita , Kyota Nakamura , Yoko Oka , Tsutomu Tamura , Takuya Tagawa , Kazuhiko Sasabe , Toshikazu Katsuta , Asuka Motoki , Kazumi Shiwaku , Hiroki Sone , Masaki Katsuno , Masahisa Eishi , Yoshinobu Taylor , J. Paul Kono , Kazuteru Tashiro , Satoshi La Spada , Albert R. Okazawa , Hitoshi A de novo G608 G mutation in LMNA geneleadsto Hutchinson - Gilford progeria syndrome
Aging disorder , HGPS , Hutchinson - Gilford progeria syndrome , Lamin A , LMNA , Mandibuloacral dysplasia , Nuclear lamina , ZMPSTE24 " , author = " Jonas Denecke and Thomas Brune and Tobias Feldhaus and Horst Robenek and Christian Kranz and Auchus , { Richard J. } and Agarwal , { Anil K. } and Thorsten Marquardt " , doi = " 10.1002 / humu.20315 " , T1 - A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA genecausesHutchinson - Gilford progeria syndrome ( HGPS
a mutation in LMNA that produces an aberrant lamin A protein , progerin(passive) is caused byHutchinson - Gilford progeria syndrome ( HGPS
mutations in the lamin A / C gene that lead to expression of a truncated , permanently farnesylated prelamin A variant called progerin(passive) is caused byHutchinson - Gilford progeria syndrome
spontaneous point mutations in LMNA(passive) is caused byHutchinson - Gilford progeria syndrome
mutations in the nuclear envelope proteins(passive) caused byHutchinson - Gilford progeria syndrome
mutant lamin A , as well as cells from patients with the disease(passive) caused byHutchinson - Gilford progeria syndrome
A truncated version of lamin A , commonly known as progerincausesHutchinson - Gilford progeria syndrome
rapid , premature agingcausesrapid , premature aging
the most dramatic form of premature agingcausesthe most dramatic form of premature aging
hair loss ( alopecia ) , aged - looking skin , joint abnormalities , and a loss of fat under the skin ( subcutaneous fatalso causeshair loss ( alopecia ) , aged - looking skin , joint abnormalities , and a loss of fat under the skin ( subcutaneous fat
Mutations in the gene that cause Hutchinson - Gilford progeria syndrome ( HGPS ) lead to expression of a protein called progerin with 50 amino acids deleted from your tail of prelamin A. encoded by two different genes ( and and genesleadMutations in the gene that cause Hutchinson - Gilford progeria syndrome ( HGPS ) lead to expression of a protein called progerin with 50 amino acids deleted from your tail of prelamin A. encoded by two different genes ( and and genes
in 1886discoveredin 1886
children to age so rapidly that their average life expectancy is only 13 yearscauseschildren to age so rapidly that their average life expectancy is only 13 years
premature aging as a result of a genetic condition it affects some 1 in every 4 million births across the worldcausespremature aging as a result of a genetic condition it affects some 1 in every 4 million births across the world
to expression of a protein called progerin with 50 amino acids deleted from the tail of prelamin A. 3rd Conference of the European Society of Infectious Diseases in Obstetrics and Gynecology ( ESIDOGleadto expression of a protein called progerin with 50 amino acids deleted from the tail of prelamin A. 3rd Conference of the European Society of Infectious Diseases in Obstetrics and Gynecology ( ESIDOG
premature aging and is associated with mutations in the gene encoding lamin A , LMNA , that disrupt prelamin A cleavage , leading to gross changes in nuclear morphology ( Goldman et al .causespremature aging and is associated with mutations in the gene encoding lamin A , LMNA , that disrupt prelamin A cleavage , leading to gross changes in nuclear morphology ( Goldman et al .
to premature deathleadto premature death
premature ageing in childrencausespremature ageing in children
to proliferative and degenerative epidermal disease | Journal of Cell Science Skip to main content Research Articleleadsto proliferative and degenerative epidermal disease | Journal of Cell Science Skip to main content Research Article
to proliferative and degenerative epidermal disease Hanna Sagelius , Ylva Rosengardten , Mubashir Hanif , Michael R. Erdos , Björn Rozell , Francis S. Collins , Maria Eriksson Journal of Cell Science 2008leadsto proliferative and degenerative epidermal disease Hanna Sagelius , Ylva Rosengardten , Mubashir Hanif , Michael R. Erdos , Björn Rozell , Francis S. Collins , Maria Eriksson Journal of Cell Science 2008
to proliferative and degenerative epidermal disease Eliminating the Synthesis of Mature Lamin A Reduces Disease Phenotypes in Mice Carrying a Hutchinson - Gilford Progeria Syndrome Allele Hyaluronan - CD44-ERK1/2 Regulate Human Aortic Smooth Muscle Cell Motility during Aging New Approaches to Progeria Plaque Rupture in Humans and Miceleadsto proliferative and degenerative epidermal disease Eliminating the Synthesis of Mature Lamin A Reduces Disease Phenotypes in Mice Carrying a Hutchinson - Gilford Progeria Syndrome Allele Hyaluronan - CD44-ERK1/2 Regulate Human Aortic Smooth Muscle Cell Motility during Aging New Approaches to Progeria Plaque Rupture in Humans and Mice
to accumulation of progerin , a mutant form of prelamin A. HGPS skin fibroblastsleadsto accumulation of progerin , a mutant form of prelamin A. HGPS skin fibroblasts
her body to age at a rapid rate as soon as she reached 18 months of agehas causedher body to age at a rapid rate as soon as she reached 18 months of age
in the production of the toxic form of prelamin A , also known as progerinresultsin the production of the toxic form of prelamin A , also known as progerin
to an aberrant Lamin A protein named progerinleadsto an aberrant Lamin A protein named progerin
to a deleterious protein called a progerin to be producedleadsto a deleterious protein called a progerin to be produced
cells in the body to die at a much faster rate than normalcausescells in the body to die at a much faster rate than normal
the body to age at a rapid pacecausesthe body to age at a rapid pace
to the synthesis of an internally truncated form of prelamin a ( commonly called progerinleadto the synthesis of an internally truncated form of prelamin a ( commonly called progerin
from a rare genetic mutation in the LMN Agene that occurs spontaneously at conceptionresultsfrom a rare genetic mutation in the LMN Agene that occurs spontaneously at conception
people to age eight times faster than the average personcausespeople to age eight times faster than the average person
to proliferative and degenerative epidermal diseaseFulltextPDFAbstractEvaluation of Mammalian Cell - free Systems of Nuclear Disassembly and AssemblyFulltextPDFAbstractA novel role for the nuclear membrane protein emerin in association of the centrosome to the outer nuclear membraneFulltextPDFAbstractCell Nuclei Spin in the Absence of Lamin B1FulltextPDFAbstractThe retinol acid receptor B geneleadsto proliferative and degenerative epidermal diseaseFulltextPDFAbstractEvaluation of Mammalian Cell - free Systems of Nuclear Disassembly and AssemblyFulltextPDFAbstractA novel role for the nuclear membrane protein emerin in association of the centrosome to the outer nuclear membraneFulltextPDFAbstractCell Nuclei Spin in the Absence of Lamin B1FulltextPDFAbstractThe retinol acid receptor B gene
accelerated aging in childrencausesaccelerated aging in children
a variety of physical ailmentscausesa variety of physical ailments
in growth failureresultsin growth failure
a person 's bodycausesa person 's body
young people to age up to ten times faster than normalcausesyoung people to age up to ten times faster than normal
hair loss and rapidly aging skinalso causeshair loss and rapidly aging skin
hair loss , aged - looking skin , joint abnormalities , and a loss of fat under the skinalso causeshair loss , aged - looking skin , joint abnormalities , and a loss of fat under the skin
Profilo operatore socio sanitariocausesProfilo operatore socio sanitario
additional depletion of the MSC pool responsible for replacing differentiated cells lost to progerin toxicitycausesadditional depletion of the MSC pool responsible for replacing differentiated cells lost to progerin toxicity
to some cells that have two nuclei ( blue ) instead of oneleadsto some cells that have two nuclei ( blue ) instead of one
from the defective Lamin A proteinresultfrom the defective Lamin A protein
children to grow old quicklycauseschildren to grow old quickly
a young person to age rapidlycausesa young person to age rapidly
for instancecausesfor instance
rapid aging in children and is induced by a Lamin A mutationcausesrapid aging in children and is induced by a Lamin A mutation