(Q24531212)

English

A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma

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A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma (English)

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Akemi Ishida-Yamamoto

2

object named as

Akemi Ishida-Yamamoto

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14

object named as

Reuven Bergman

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author name string

Eli Sprecher

1

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Mordechai Mizrahi-Koren

3

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Debora Rapaport

4

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Dorit Goldsher

5

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Margarita Indelman

6

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Orit Topaz

7

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Ilana Chefetz

8

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Hanni Keren

9

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Timothy J O'brien

10

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Dani Bercovich

11

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Stavit Shalev

12

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Dan Geiger

13

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Mia Horowitz

15

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Hanna Mandel

16

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language of work or name

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publication date

August 2005

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American Journal of Human Genetics

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77

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2

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242-51

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SNAP-29-mediated modulation of synaptic transmission in cultured hippocampal neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

24 March 2017

LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

24 March 2017

The synaptic vesicle cycle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

24 March 2017

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

24 March 2017

SNAP-29: a general SNARE protein that inhibits SNARE disassembly and is implicated in synaptic transmission

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

24 March 2017

GS32, a novel Golgi SNARE of 32 kDa, interacts preferentially with syntaxin 6

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

24 March 2017

Three novel proteins of the syntaxin/SNAP-25 family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

24 March 2017

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

24 March 2017

Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE/KLK5/hK5 and SCCE/KLK7/hK7

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

24 March 2017

Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

24 March 2017

Association of insulin-like growth factor 1 receptor with EHD1 and SNAP29

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

24 March 2017

Membrane localization and biological activity of SNAP-25 cysteine mutants in insulin-secreting cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

24 March 2017

Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

24 March 2017

A proline-rich region and nearby cysteine residues target XLalphas to the Golgi complex region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

24 March 2017

The mechanisms of vesicle budding and fusion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

7 April 2017

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

7 April 2017

Unveiling the mechanisms of cell-cell fusion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

27 September 2017

SNARE Protein Structure and Function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

27 September 2017

Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

27 September 2017

Exocytosis, endocytosis, and development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

27 September 2017

SNAREs during development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

27 September 2017

SNAP-29 is a promiscuous syntaxin-binding SNARE.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

27 September 2017

Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

27 September 2017

Identification of the homologous beige and Chediak-Higashi syndrome genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

27 September 2017

Monoclonal antibodies against simian virus 40 T antigens: evidence for distinct sublcasses of large T antigen and for similarities among nonviral T antigens

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

27 September 2017

Transient, high levels of SNAP-25 expression in cholinergic amacrine cells during postnatal development of the mammalian retina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

30 May 2018

Immortalization of xeroderma pigmentosum cells by simian virus 40 DNA having a defective origin of DNA replication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

30 May 2018

Exact genetic linkage computations for general pedigrees

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

29 November 2018

Subcellular distribution of 3 functional platelet SNARE proteins: human cellubrevin, SNAP-23, and syntaxin 2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

29 November 2018

Interstitial pneumonia in Hermansky-Pudlak syndrome: significance of florid foamy swelling/degeneration (giant lamellar body degeneration) of type-2 pneumocytes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1224527

29 November 2018

The stratum corneum chymotryptic enzyme that mediates shedding and desquamation of skin cells is highly overexpressed in ovarian tumor cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/15968592

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Denaturing high-performance liquid chromatography for the detection of mutations and polymorphisms in UBE3A

1 reference

https://pubmed.ncbi.nlm.nih.gov/15968592

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The epidermal lamellar body: a fascinating secretory organelle

1 reference

https://pubmed.ncbi.nlm.nih.gov/15968592

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

release_zq4sy66qbrci5itlvgauore7z4

1 reference

https://api.fatcat.wiki/v0/release/zq4sy66qbrci5itlvgauore7z4

24 November 2022

based on heuristic

mapped directly with Wikidata item

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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