(Q77738099)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11882363%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

title

Genetic analysis of patients with leukocyte adhesion deficiency: genomic sequencing reveals otherwise undetectable mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11882363%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

author name string

Dirk Roos

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11882363%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Christof Meischl

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11882363%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Martin de Boer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11882363%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Suat Simsek

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11882363%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Ron S Weening

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11882363%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Ozden Sanal

6

1 reference

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7 December 2019

Ilhan Tezcan

7

1 reference

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7 December 2019

Tayfun Güngör

8

1 reference

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7 December 2019

S K Alex Law

9

1 reference

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7 December 2019

publication date

1 March 2002

1 reference

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7 December 2019

published in

Experimental Hematology

1 reference

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7 December 2019

volume

30

1 reference

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7 December 2019

issue

3

1 reference

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7 December 2019

page(s)

252-261

1 reference

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Leukocyte adhesion molecules deficiency: its structural basis, pathophysiology and implications for modulating the inflammatory response

7 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

The leukocyte integrins

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

Structure and function of leukocyte integrins

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

A novel leukointegrin, alpha d beta 2, binds preferentially to ICAM-3.

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

Integrins: a family of cell surface receptors

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

The Severe and Moderate Phenotypes of Heritable Mac-1, LFA-1 Deficiency: Their Quantitative Definition and Relation to Leukocyte Dysfunction and Clinical Features

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

Cloning of the beta subunit of the leukocyte adhesion proteins: homology to an extracellular matrix receptor defines a novel supergene family.

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

Chromosomal location of the genes encoding the leukocyte adhesion receptors LFA-1, Mac-1 and p150,95. Identification of a gene cluster involved in cell adhesion

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

Heterogeneous mutations in the beta subunit common to the LFA-1, Mac-1, and p150,95 glycoproteins cause leukocyte adhesion deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

Molecular basis for a severe case of leukocyte adhesion deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

Leukocyte adhesion deficiency: identification of novel mutations in two Japanese patients with a severe form

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

Characterization of two new CD18 alleles causing severe leukocyte adhesion deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

Molecular characterization of leukocyte adhesion deficiency in six patients

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

The gene organisation of the human beta 2 integrin subunit (CD18)

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

Recombinant human interferon-gamma treatment in severe leucocyte adhesion deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

Restriction fragment length polymorphism of the gene of the human leukocyte integrin beta-subunit (CD18).

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

Molecular evolution of integrins: genes encoding integrin beta subunits from a coral and a sponge

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

A novel point mutation in CD18 causing the expression of dysfunctional CD11/CD18 leucocyte integrins in a patient with leucocyte adhesion deficiency (LAD)

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1.

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

Nonconsensus branch-site sequences in the in vitro splicing of transcripts of mutant rabbit beta-globin genes

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

Intron sequences involved in lariat formation during pre-mRNA splicing.

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

Cryptic branch point activation allows accurate in vitro splicing of human beta-globin intron mutants

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

A novel beta thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3' end of IVS 2

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease).

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

Mechanisms leading to uniparental disomy and their clinical consequences

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

Human gene mutations affecting RNA processing and translation

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

Prenatal diagnostic procedure for leukocyte adhesion deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0301-472X%2801%2900782-2

7 January 2021

10.1016/S0301-472X(01)00782-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11882363%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

1 reference