LymphedemaV1, Main, Exploration, bibRecord, 007F80

Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification

Identifieur interne : 007F80 ( Main/Exploration ); précédent : 007F79; suivant : 007F81

Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification

Auteurs : Kym M. Boycott ; Shauna Flavelle ; Alexandre Bureau ; Hannah C. Glass [Canada] ; T. Mary Fujiwara [Canada] ; Elaine Wirrell [Canada] ; Krista Davey ; Albert E. Chudley [Canada] ; James N. Scott ; D. Ross Mcleod ; Jillian S. Parboosingh

Source :

American Journal of Human Genetics [ 0002-9297 ] ; 2005.

RBID : PMC:1226212

Abstract

An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental retardation is associated with inferior cerebellar hypoplasia and mild cerebral gyral simplification in the Hutterite population. An identity-by-descent mapping approach using eight patients from three interrelated Hutterite families localized the gene for this syndrome to chromosome region 9p24. Haplotype analysis identified familial and ancestral recombination events and refined the minimal region to a 2-Mb interval between markers D9S129 and D9S1871. A 199-kb homozygous deletion encompassing the entire very low density lipoprotein receptor (VLDLR) gene was present in all affected individuals. VLDLR is part of the reelin signaling pathway, which guides neuroblast migration in the cerebral cortex and cerebellum. To our knowledge, this syndrome represents the first human lipoprotein receptor malformation syndrome and the second human disease associated with a reelin pathway defect.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1226212

PubMed: 16080122
PubMed Central: 1226212

Affiliations:

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification</title>
<author><name sortKey="Boycott, Kym M" sort="Boycott, Kym M" uniqKey="Boycott K" first="Kym M." last="Boycott">Kym M. Boycott</name>
<affiliation><nlm:aff wicri:cut=" and" id="N0x93bd4b0.0x9cbae58">Department of Medical Genetics</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Flavelle, Shauna" sort="Flavelle, Shauna" uniqKey="Flavelle S" first="Shauna" last="Flavelle">Shauna Flavelle</name>
<affiliation><nlm:aff wicri:cut=" and" id="N0x93bd4b0.0x9cbae58">Department of Medical Genetics</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bureau, Alexandre" sort="Bureau, Alexandre" uniqKey="Bureau A" first="Alexandre" last="Bureau">Alexandre Bureau</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Glass, Hannah C" sort="Glass, Hannah C" uniqKey="Glass H" first="Hannah C." last="Glass">Hannah C. Glass</name>
<affiliation wicri:level="4"><nlm:aff wicri:cut=", and" id="N0x93bd4b0.0x9cbae58">Division of Pediatric Neurology, Alberta Children’s Hospital and University of Calgary</nlm:aff>
<country>Canada</country>
<placeName><settlement type="city">Calgary</settlement>
<region type="state">Alberta</region>
</placeName>
<orgName type="university">Université de Calgary</orgName>
</affiliation>
</author>
<author><name sortKey="Fujiwara, T Mary" sort="Fujiwara, T Mary" uniqKey="Fujiwara T" first="T. Mary" last="Fujiwara">T. Mary Fujiwara</name>
<affiliation wicri:level="3"><nlm:aff wicri:cut="; and" id="N0x93bd4b0.0x9cbae58">Departments of Human Genetics and Medicine, McGill University, Montreal</nlm:aff>
<country>Canada</country>
<placeName><settlement type="city">Montréal</settlement>
<region type="state">Québec</region>
</placeName>
<wicri:orgArea>Departments of Human Genetics and Medicine, McGill University</wicri:orgArea>
</affiliation>
</author>
<author><name sortKey="Wirrell, Elaine" sort="Wirrell, Elaine" uniqKey="Wirrell E" first="Elaine" last="Wirrell">Elaine Wirrell</name>
<affiliation wicri:level="4"><nlm:aff wicri:cut=", and" id="N0x93bd4b0.0x9cbae58">Division of Pediatric Neurology, Alberta Children’s Hospital and University of Calgary</nlm:aff>
<country>Canada</country>
<placeName><settlement type="city">Calgary</settlement>
<region type="state">Alberta</region>
</placeName>
<orgName type="university">Université de Calgary</orgName>
</affiliation>
</author>
<author><name sortKey="Davey, Krista" sort="Davey, Krista" uniqKey="Davey K" first="Krista" last="Davey">Krista Davey</name>
<affiliation><nlm:aff wicri:cut=" and" id="N0x93bd4b0.0x9cbae58">Department of Medical Genetics</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Chudley, Albert E" sort="Chudley, Albert E" uniqKey="Chudley A" first="Albert E." last="Chudley">Albert E. Chudley</name>
<affiliation wicri:level="4"><nlm:aff id="N0x93bd4b0.0x9cbae58">Section of Genetics and Metabolism, Children’s Hospital and the Department of Pediatrics and Child Health, University of Manitoba, Winnipeg</nlm:aff>
<orgName type="university">Université du Manitoba</orgName>
<country>Canada</country>
<placeName><settlement type="city">Winnipeg</settlement>
<region type="state">Manitoba</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Scott, James N" sort="Scott, James N" uniqKey="Scott J" first="James N." last="Scott">James N. Scott</name>
<affiliation><nlm:aff id="N0x93bd4b0.0x9cbae58">Department of Radiology, Foothills Hospital, Calgary;</nlm:aff>
<wicri:noCountry code="subfield">Calgary</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Mcleod, D Ross" sort="Mcleod, D Ross" uniqKey="Mcleod D" first="D. Ross" last="Mcleod">D. Ross Mcleod</name>
<affiliation><nlm:aff wicri:cut=" and" id="N0x93bd4b0.0x9cbae58">Department of Medical Genetics</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Parboosingh, Jillian S" sort="Parboosingh, Jillian S" uniqKey="Parboosingh J" first="Jillian S." last="Parboosingh">Jillian S. Parboosingh</name>
<affiliation><nlm:aff wicri:cut=" and" id="N0x93bd4b0.0x9cbae58">Department of Medical Genetics</nlm:aff>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">16080122</idno>
<idno type="pmc">1226212</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1226212</idno>
<idno type="RBID">PMC:1226212</idno>
<date when="2005">2005</date>
<idno type="wicri:Area/Pmc/Corpus">000003</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000003</idno>
<idno type="wicri:Area/Pmc/Curation">000003</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000003</idno>
<idno type="wicri:Area/Pmc/Checkpoint">003D63</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">003D63</idno>
<idno type="wicri:Area/Ncbi/Merge">001F17</idno>
<idno type="wicri:Area/Ncbi/Curation">001F17</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">001F17</idno>
<idno type="wicri:doubleKey">0002-9297:2005:Boycott K:homozygous:deletion:of</idno>
<idno type="wicri:Area/Main/Merge">008194</idno>
<idno type="wicri:Area/Main/Curation">007F80</idno>
<idno type="wicri:Area/Main/Exploration">007F80</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification</title>
<author><name sortKey="Boycott, Kym M" sort="Boycott, Kym M" uniqKey="Boycott K" first="Kym M." last="Boycott">Kym M. Boycott</name>
<affiliation><nlm:aff wicri:cut=" and" id="N0x93bd4b0.0x9cbae58">Department of Medical Genetics</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Flavelle, Shauna" sort="Flavelle, Shauna" uniqKey="Flavelle S" first="Shauna" last="Flavelle">Shauna Flavelle</name>
<affiliation><nlm:aff wicri:cut=" and" id="N0x93bd4b0.0x9cbae58">Department of Medical Genetics</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bureau, Alexandre" sort="Bureau, Alexandre" uniqKey="Bureau A" first="Alexandre" last="Bureau">Alexandre Bureau</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Glass, Hannah C" sort="Glass, Hannah C" uniqKey="Glass H" first="Hannah C." last="Glass">Hannah C. Glass</name>
<affiliation wicri:level="4"><nlm:aff wicri:cut=", and" id="N0x93bd4b0.0x9cbae58">Division of Pediatric Neurology, Alberta Children’s Hospital and University of Calgary</nlm:aff>
<country>Canada</country>
<placeName><settlement type="city">Calgary</settlement>
<region type="state">Alberta</region>
</placeName>
<orgName type="university">Université de Calgary</orgName>
</affiliation>
</author>
<author><name sortKey="Fujiwara, T Mary" sort="Fujiwara, T Mary" uniqKey="Fujiwara T" first="T. Mary" last="Fujiwara">T. Mary Fujiwara</name>
<affiliation wicri:level="3"><nlm:aff wicri:cut="; and" id="N0x93bd4b0.0x9cbae58">Departments of Human Genetics and Medicine, McGill University, Montreal</nlm:aff>
<country>Canada</country>
<placeName><settlement type="city">Montréal</settlement>
<region type="state">Québec</region>
</placeName>
<wicri:orgArea>Departments of Human Genetics and Medicine, McGill University</wicri:orgArea>
</affiliation>
</author>
<author><name sortKey="Wirrell, Elaine" sort="Wirrell, Elaine" uniqKey="Wirrell E" first="Elaine" last="Wirrell">Elaine Wirrell</name>
<affiliation wicri:level="4"><nlm:aff wicri:cut=", and" id="N0x93bd4b0.0x9cbae58">Division of Pediatric Neurology, Alberta Children’s Hospital and University of Calgary</nlm:aff>
<country>Canada</country>
<placeName><settlement type="city">Calgary</settlement>
<region type="state">Alberta</region>
</placeName>
<orgName type="university">Université de Calgary</orgName>
</affiliation>
</author>
<author><name sortKey="Davey, Krista" sort="Davey, Krista" uniqKey="Davey K" first="Krista" last="Davey">Krista Davey</name>
<affiliation><nlm:aff wicri:cut=" and" id="N0x93bd4b0.0x9cbae58">Department of Medical Genetics</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Chudley, Albert E" sort="Chudley, Albert E" uniqKey="Chudley A" first="Albert E." last="Chudley">Albert E. Chudley</name>
<affiliation wicri:level="4"><nlm:aff id="N0x93bd4b0.0x9cbae58">Section of Genetics and Metabolism, Children’s Hospital and the Department of Pediatrics and Child Health, University of Manitoba, Winnipeg</nlm:aff>
<orgName type="university">Université du Manitoba</orgName>
<country>Canada</country>
<placeName><settlement type="city">Winnipeg</settlement>
<region type="state">Manitoba</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Scott, James N" sort="Scott, James N" uniqKey="Scott J" first="James N." last="Scott">James N. Scott</name>
<affiliation><nlm:aff id="N0x93bd4b0.0x9cbae58">Department of Radiology, Foothills Hospital, Calgary;</nlm:aff>
<wicri:noCountry code="subfield">Calgary</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Mcleod, D Ross" sort="Mcleod, D Ross" uniqKey="Mcleod D" first="D. Ross" last="Mcleod">D. Ross Mcleod</name>
<affiliation><nlm:aff wicri:cut=" and" id="N0x93bd4b0.0x9cbae58">Department of Medical Genetics</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Parboosingh, Jillian S" sort="Parboosingh, Jillian S" uniqKey="Parboosingh J" first="Jillian S." last="Parboosingh">Jillian S. Parboosingh</name>
<affiliation><nlm:aff wicri:cut=" and" id="N0x93bd4b0.0x9cbae58">Department of Medical Genetics</nlm:aff>
</affiliation>
</author>
</analytic>
<series><title level="j">American Journal of Human Genetics</title>
<idno type="ISSN">0002-9297</idno>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2005">2005</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental retardation is associated with inferior cerebellar hypoplasia and mild cerebral gyral simplification in the Hutterite population. An identity-by-descent mapping approach using eight patients from three interrelated Hutterite families localized the gene for this syndrome to chromosome region 9p24. Haplotype analysis identified familial and ancestral recombination events and refined the minimal region to a 2-Mb interval between markers <italic>D9S129</italic>
 and <italic>D9S1871.</italic>
 A 199-kb homozygous deletion encompassing the entire very low density lipoprotein receptor (<italic>VLDLR</italic>
) gene was present in all affected individuals. <italic>VLDLR</italic>
 is part of the reelin signaling pathway, which guides neuroblast migration in the cerebral cortex and cerebellum. To our knowledge, this syndrome represents the first human lipoprotein receptor malformation syndrome and the second human disease associated with a reelin pathway defect.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Canada</li>
</country>
<region><li>Alberta</li>
<li>Manitoba</li>
<li>Québec</li>
</region>
<settlement><li>Calgary</li>
<li>Montréal</li>
<li>Winnipeg</li>
</settlement>
<orgName><li>Université de Calgary</li>
<li>Université du Manitoba</li>
</orgName>
</list>
<tree><noCountry><name sortKey="Boycott, Kym M" sort="Boycott, Kym M" uniqKey="Boycott K" first="Kym M." last="Boycott">Kym M. Boycott</name>
<name sortKey="Bureau, Alexandre" sort="Bureau, Alexandre" uniqKey="Bureau A" first="Alexandre" last="Bureau">Alexandre Bureau</name>
<name sortKey="Davey, Krista" sort="Davey, Krista" uniqKey="Davey K" first="Krista" last="Davey">Krista Davey</name>
<name sortKey="Flavelle, Shauna" sort="Flavelle, Shauna" uniqKey="Flavelle S" first="Shauna" last="Flavelle">Shauna Flavelle</name>
<name sortKey="Mcleod, D Ross" sort="Mcleod, D Ross" uniqKey="Mcleod D" first="D. Ross" last="Mcleod">D. Ross Mcleod</name>
<name sortKey="Parboosingh, Jillian S" sort="Parboosingh, Jillian S" uniqKey="Parboosingh J" first="Jillian S." last="Parboosingh">Jillian S. Parboosingh</name>
<name sortKey="Scott, James N" sort="Scott, James N" uniqKey="Scott J" first="James N." last="Scott">James N. Scott</name>
</noCountry>
<country name="Canada"><region name="Alberta"><name sortKey="Glass, Hannah C" sort="Glass, Hannah C" uniqKey="Glass H" first="Hannah C." last="Glass">Hannah C. Glass</name>
</region>
<name sortKey="Chudley, Albert E" sort="Chudley, Albert E" uniqKey="Chudley A" first="Albert E." last="Chudley">Albert E. Chudley</name>
<name sortKey="Fujiwara, T Mary" sort="Fujiwara, T Mary" uniqKey="Fujiwara T" first="T. Mary" last="Fujiwara">T. Mary Fujiwara</name>
<name sortKey="Wirrell, Elaine" sort="Wirrell, Elaine" uniqKey="Wirrell E" first="Elaine" last="Wirrell">Elaine Wirrell</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 007F80 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 007F80 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     PMC:1226212
   |texte=   Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i   -Sk "pubmed:16080122" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd   \
       | NlmPubMed2Wicri -a LymphedemaV1

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

Serveur d'exploration sur le lymphœdème

Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification

Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification

Source :

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Serveur d'exploration sur le lymphœdème
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.