1
40
2
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1086/378418" target="_blank" rel="noreferrer">http://doi.org/10.1086/378418</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis
Publisher
An entity responsible for making the resource available
American Journal Of Human Genetics
Date
A point or period of time associated with an event in the lifecycle of the resource
2003
Subject
The topic of the resource
Female; Humans; Male; Family; Mutation; Animals; Molecular Sequence Data; Non-U.S. Gov't; Research Support; Pedigree; Membrane Proteins/genetics; Base Sequence; Amino Acid Sequence; Amino Acid; DNA Primers; Fibroma/genetics; Genetic Markers; Gingival Hypertrophy/genetics; In Situ Hybridization; Myofibromatosis/genetics; Reverse Transcriptase Polymerase Chain Reaction; Sequence Alignment; Sequence Homology; Skin Neoplasms/genetics
Creator
An entity primarily responsible for making the resource
Hanks S; Adams S; Douglas J; Arbour L; Atherton DJ; Balci S; Bode H; Campbell ME; Feingold M; Keser G; Kleijer W; Mancini G; McGrath JA; Muntoni F; Nanda A; Teare MD; Warman M; Pope FM; Superti-Furga A; Futreal PA; Rahman N
Description
An account of the resource
Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are autosomal recessive conditions characterized by multiple subcutaneous skin nodules, gingival hypertrophy, joint contractures, and hyaline deposition. We previously mapped the gene for JHF to chromosome 4q21. We now report the identification of 15 different mutations in the gene encoding capillary morphogenesis protein 2 (CMG2) in 17 families with JHF or ISH. CMG2 is a transmembrane protein that is induced during capillary morphogenesis and that binds laminin and collagen IV via a von Willebrand factor type A (vWA) domain. Of interest, CMG2 also functions as a cellular receptor for anthrax toxin. Preliminary genotype-phenotype analyses suggest that abrogation of binding by the vWA domain results in severe disease typical of ISH, whereas in-frame mutations affecting a novel, highly conserved cytoplasmic domain result in a milder phenotype. These data (1) demonstrate that JHF and ISH are allelic conditions and (2) implicate perturbation of basement-membrane matrix assembly as the cause of the characteristic perivascular hyaline deposition seen in these conditions.
2003
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1086/378418" target="_blank" rel="noreferrer">10.1086/378418</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2003
Adams S
American Journal Of Human Genetics
Amino Acid
Amino Acid Sequence
Animals
Arbour L
Atherton DJ
Backlog
Balci S
Base Sequence
Bode H
Campbell ME
DNA Primers
Douglas J
Family
Feingold M
Female
Fibroma/genetics
Futreal PA
Genetic Markers
Gingival Hypertrophy/genetics
Hanks S
Humans
In Situ Hybridization
Journal Article
Keser G
Kleijer W
Male
Mancini G
McGrath JA
Membrane Proteins/genetics
Molecular Sequence Data
Muntoni F
Mutation
Myofibromatosis/genetics
Nanda A
Non-U.S. Gov't
Pedigree
Pope FM
Rahman N
Research Support
Reverse Transcriptase Polymerase Chain Reaction
Sequence Alignment
Sequence Homology
Skin Neoplasms/genetics
Superti-Furga A
Teare MD
Warman M
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1111/j.1365-2133.1990.tb04440.x" target="_blank" rel="noreferrer">http://doi.org/10.1111/j.1365-2133.1990.tb04440.x</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Infantile systemic hyalinosis: newly recognized disorder of collagen?
Publisher
An entity responsible for making the resource available
Pediatrics
Date
A point or period of time associated with an event in the lifecycle of the resource
1991
Subject
The topic of the resource
Female; Humans; infant; Prognosis; Movement; Pain/etiology; Newborn; Hyalin/metabolism; Collagen Diseases/metabolism/pathology/physiopathology; Gingiva/pathology; Hypertrophy; Jejunum/pathology; Joints/physiopathology; Skin/pathology/ultrastructure
Creator
An entity primarily responsible for making the resource
Glover MT; Lake BD; Atherton DJ
Description
An account of the resource
Four infants with stiff skin and painful joint contractures in the first few months of life are described. Other features included small papules, particularly on the face and trunk, perianal nodules, hyperpigmentation over the metacarpophalangeal joints and over the malleoli, gingival hyperplasia, persistent diarrhea, and failure to thrive. Two of these infants died before the age of 18 months. In each case hyaline material was found in the papillary dermis. Ultrastructurally, there was a distinctive fibrillogranular appearance in which a banding pattern could be observed. This material was also found within membrane-bound vacuoles in macrophages and fibroblasts. It had an appearance and localization identical with that of collagen type VI. These features are similar to those reported in juvenile hyaline fibromatosis. It is believed that these infants have a closely related, but nonetheless distinctive, inherited disorder of collagen.
1991
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1111/j.1365-2133.1990.tb04440.x" target="_blank" rel="noreferrer">10.1111/j.1365-2133.1990.tb04440.x</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
1991
Atherton DJ
Backlog
Collagen Diseases/metabolism/pathology/physiopathology
Female
Gingiva/pathology
Glover MT
Humans
Hyalin/metabolism
Hypertrophy
Infant
Jejunum/pathology
Joints/physiopathology
Journal Article
Lake BD
Movement
Newborn
Pain/etiology
Pediatrics
Prognosis
Skin/pathology/ultrastructure