The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases. (Q30366056)

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27 December 2019

title

The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases (English)

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John Common

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Kee Woei Ng

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Irwin McLean

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Ildiko Szeverenyi

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Declan P Lunny

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Declan P Lunny

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author name string

Cheuk Wang Chung

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Bernett T K Lee

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Stephen C Ogg

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Huijia Chen

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Shu Yin Sim

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Walter L P Goh

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John A Simpson

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Li Lian Chee

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Goi Hui Eng

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Bin Li

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Danny Chuon

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Aparna Venkatesh

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Kian Hoe Khoo

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Yun Ping Lim

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E Birgitte Lane

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publication date

1 March 2008

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27 December 2019

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27 December 2019

volume

29

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issue

3

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27 December 2019

page(s)

351-360

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Basic local alignment search tool

27 December 2019

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Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy

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Human laminopathies: nuclei gone genetically awry

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7 January 2021

The CpG dinucleotide and human genetic disease

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7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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7 January 2021

Nomenclature for the description of human sequence variations.

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7 January 2021

Intermediate filaments and tissue repair

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7 January 2021

Mutagenic deamination of cytosine residues in DNA

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7 January 2021

A structural scaffolding of intermediate filaments in health and disease

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7 January 2021

Intermediate filaments: structure, dynamics, function, and disease

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7 January 2021

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7 January 2021

Intermediate filaments: molecular structure, assembly mechanism, and integration into functionally distinct intracellular Scaffolds

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7 January 2021

A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients

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7 January 2021

The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy

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7 January 2021

Keratins and skin disorders

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7 January 2021

Functions of intermediate filaments in neuronal development and disease

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7 January 2021

Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex

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7 January 2021

DNA excision repair pathways

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7 January 2021

An alternative splicing product of the lamin A/C gene lacks exon 10.

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7 January 2021

Intermediate filament proteins and their associated diseases

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7 January 2021

Phenotypes, genotypes and their contribution to understanding keratin function

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7 January 2021

NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

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7 January 2021

Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.

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7 January 2021

The use of antibodies to intermediate filament proteins in the differential diagnosis of lymphoma versus metastatic carcinoma

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7 January 2021

The human type I keratin gene family: characterization of new hair follicle specific members and evaluation of the chromosome 17q21.2 gene domain

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7 January 2021

Characterization of new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q13.13

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7 January 2021

Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens

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7 January 2021

New consensus nomenclature for mammalian keratins

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7 January 2021

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

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7 January 2021

Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C

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7 January 2021

Intermediate filaments: conformity and diversity of expression and structure

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7 January 2021

Conserved segments 1A and 2B of the intermediate filament dimer: their atomic structures and role in filament assembly

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7 January 2021

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

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7 January 2021

Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy

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7 January 2021

Coiled-coil trigger motifs in the 1B and 2B rod domain segments are required for the stability of keratin intermediate filaments

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20652

1 reference

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release_spufe52kgbhlbnnnu52dlgqas4

27 December 2019

Fatcat ID

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Fatcat

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24 November 2022

mapped directly with Wikidata item

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