Human intermediate filament database

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Web9 Apr 2024 · LMNA provided by HGNC Official Full Name lamin A/C provided by HGNC Primary source HGNC:HGNC:6636 Gene type RefSeq status Organism Lineage Also known as Summary The protein encoded by this gene is part of the nuclear lamina, a two-dimensional matrix of proteins located next to the inner nuclear membrane. WebThe Human Intermediate Filament Database (http://www.interfil.org) was initiated by the Human Genetics Unit, University of Dundee in 2001 and was revised by the Centre for …

Update of the keratin gene family: evolution, tissue-specific ...

Web1 Jul 2009 · Intermediate filaments (IFs) are major constituents of the cytoskeleton and nuclear boundary in animal cells. ... The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases. Hum. Mutat. 29:351-360. View this article via: CrossRef PubMed Google Scholar. Hol, E.M., et … WebKeratins are the intermediate filament proteins specifically expressed by epithelial cells. The Human Genome Project has uncovered a total of 54 functional keratin genes that are differentially expressed in specific epithelial structures of the body, many of which involve the epidermis and its appendages. Pachyonychia congenita (PC) is a group of autosomal … hcpc ftp

Human Intermediate Filament Database re3data.org

Web1 Mar 2008 · The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases. 1 Europe PMC requires Javascript to … Web7 rows · 10 Feb 2024 · Full name: Human Intermediate Filament Database. Description: Intermediate filaments are ... WebIntermediate filament proteins are regulated by several post-translational modifications, including farnesylation, phosphorylation, glycosylation, and transglutamination, and by an accumulating... hcpc for wrist brace

KVarPredDB: a database for predicting pathogenicity of ... - Human …

Human Intermediate Filament Database - Database Commons - CNCB

Web7 Dec 2024 · Human epidermis is the outermost layer of the skin, which plays a protective role in human body. The epidermis is majorly composed of keratinocytes (> 90%) [].To achieve the environment-barrier function, it should be intact and undisturbed with an integrated cytoskeletal network [].The cytoskeleton majorly consists of three groups of … WebProtein structure of K3 and K12, constructed using data from the Human Intermediate Filament Database. Each intermediate filament consists of an N-terminal head domain, a central α-helical rod ... gold cup asv 2-eye boat shoe gold cup ascot 2022

"Web1 Mar 2008 · The family of 70 intermediate filament genes (including those encoding keratins, desmins, and lamins) is now known to be associated with a wide range of … " - Human intermediate filament database

Human intermediate filament database

WebThe Intermediate Filament Database functions as a continuously updated review of the intermediate filament field and it is hoped that users will contribute to the development … Web29 Mar 2024 · LMNB1 provided by HGNC Official Full Name lamin B1 provided by HGNC Primary source HGNC:HGNC:6637 Gene type RefSeq status Organism Lineage Also known as LMN; ADLD; LMN2; LMNB; MCPH26 Summary This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina.

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Web6 Jan 2024 · Abstract. Intermediate filament (IntFil) genes arose during early metazoan evolution, to provide mechanical support for plasma membranes contacting/interacting … WebThe Intermediate Filament Database will function as a continuously updated review of the intermediate filament field and it is hoped that users will contribute to the development …

WebIntermediate filaments are built from monomers that associate with each other form dimers. Pairs of dimers then associate in an anti-parallel fashion to form staggered tetramers. Lateral associations between eight tetramers form unit-length filaments, which are able to anneal to each other, end-to-end, to form intermediate filaments. Web30 Sep 2024 · Null mutations in mice, BioGRID interacting polypeptides, and human pLI scores for intermediate filament subunit proteins. ... database 11, reveal essentially zero probability of being loss-of-

Web1 Mar 2008 · The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases. 1 Europe PMC requires Javascript to … WebIntermediate filaments (IFs) are cytoskeletal structural components found in the cells of vertebrates, and many invertebrates. Homologues of the IF protein have been noted in an invertebrate, the cephalochordate Branchiostoma.. Intermediate filaments are composed of a family of related proteins sharing common structural and sequence features. Initially …

WebIntermediate filaments ( IFs) are cytoskeletal structural components found in the cells of vertebrates, and many invertebrates. [1] [2] [3] Homologues of the IF protein have been …

WebIntermediate filaments (IFs) make up one of three cytoskeletal systems in human cells. This family of proteins include cytoplasmic intermediate filaments, which form an … gold cup at ascotWebHuman Intermediate Filament Database KRT84, has tests registered in GTR. Lab information includes contact information, lab directors and genetic counselors, … hcpc four pillars of practiceWeb1 Mar 2008 · The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases DOI: Authors: Ildiko Szeverenyi Andrew … hcpc for wheelchair seat beltWeb10 Sep 2024 · Keratin 1B domain mutations identified from the Human Intermediate Filament Database. Fifteen DNA and protein mutations are listed, with 9 missense mutations that were modeled in this study. The Polyphen-2 algorithm was used to generally predict a mutation effect on the keratin. “Disease Mechanism” depicts the hypothesized … gold cup attireWeb21 Nov 2007 · The family of 70 intermediate filament genes (including those encoding keratins, desmins, and lamins) is now known to be associated with a wide range of … The family of 70 intermediate filament genes (including those encoding … gold cup asv 2-eye boat shoe 0579052Web16 Feb 2009 · HIFD -- Human Intermediate Filament Database The database catalogs 1,274 manually-curated pathogenic sequence variants and 170 allelic variants in … gold cup at low cattonWeb1 May 2011 · Curated by the Centre for Molecular Medicine and the Bioinformatics Institute in Singapore, the Human Intermediate Filament Database includes sequence information for the various genes encoding... gold cup atlanta