(Q24671643)

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Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14

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Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14 (English)

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dermatopathia pigmentosa reticularis

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based on heuristic

inferred from title

Naegeli–Franceschetti–Jadassohn syndrome

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based on heuristic

inferred from title

Akemi Ishida-Yamamoto

3

object named as

Akemi Ishida-Yamamoto

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Hans Christian Hennies

7

object named as

Hans Christian Hennies

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10

object named as

Jouni Uitto

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11

object named as

Reuven Bergman

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author name string

Jennie Lugassy

1

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Peter Itin

2

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Kristen Holland

4

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Susan Huson

5

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Dan Geiger

6

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Margarita Indelman

8

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Dani Bercovich

9

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John A McGrath

12

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Gabriele Richard

13

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Eli Sprecher

14

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language of work or name

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publication date

October 2006

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American Journal of Human Genetics

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79

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4

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724-30

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DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

7 April 2017

Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

7 April 2017

Characterization of a novel human type II epithelial keratin K1b, specifically expressed in eccrine sweat glands

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

7 April 2017

Keratin attenuates tumor necrosis factor-induced cytotoxicity through association with TRADD

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

7 April 2017

Comprehensive analysis of keratin gene clusters in humans and rodents

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

7 April 2017

An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

7 April 2017

'Hard' and 'soft' principles defining the structure, function and regulation of keratin intermediate filaments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

7 April 2017

Dermatopathia pigmentosa reticularis: a report of a family demonstrating autosomal dominant inheritance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

7 April 2017

Mutations in gasdermin 3 cause aberrant differentiation of the hair follicle and sebaceous gland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

7 April 2017

Epidermolysis Bullosa Simplex with Mottled Pigmentation Resulting from a Recurrent Mutation in KRT14

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

7 April 2017

Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

28 September 2017

The genetic basis of pachyonychia congenita.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

28 September 2017

The NF-kappaB signaling pathway in human genetic diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

28 September 2017

The cornified envelope: a model of cell death in the skin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

28 September 2017

Inherited defects in keratins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

28 September 2017

Intermediate filament proteins and their associated diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

28 September 2017

Genetics of pigmentary disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

28 September 2017

The keratins and their disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

28 September 2017

An autocrine/paracrine loop linking keratin 14 aggregates to tumor necrosis factor alpha-mediated cytotoxicity in a keratinocyte model of epidermolysis bullosa simplex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

28 September 2017

Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

28 September 2017

A highly conserved lysine residue on the head domain of type II keratins is essential for the attachment of keratin intermediate filaments to the cornified cell envelope through isopeptide crosslinking by transglutaminases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

28 September 2017

Plasma membrane alterations and cytoskeletal changes in apoptosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

28 September 2017

A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

28 September 2017

Embryologic development of epidermal ridges and their configurations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

28 September 2017

Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

30 May 2018

Dysplasia of epidermal ridges. Evidence of an apical dysplasia of the fingers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

30 May 2018

Hyperpigmentation and hypohidrosis. (The Naegeli-Franceschetti-Jadassohn syndrome): report of a family and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

30 May 2018

A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

28 November 2018

Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

28 November 2018

Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592572

28 November 2018

[30] Gel protein stains: Silver stain

1 reference

https://pubmed.ncbi.nlm.nih.gov/16960809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs

1 reference

https://pubmed.ncbi.nlm.nih.gov/16960809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Nägeli-Franceschetti-Jadassohn syndrome: A hereditary ectodermal defect leading to colloid-amyloid formation in the dermis

1 reference

https://pubmed.ncbi.nlm.nih.gov/16960809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genodermatosis with reticulate, patchy and mottled pigmentation of the neck--a clue to rare dermatologic disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/16960809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[On incontinentia pigmenti and differentiation of two syndromes appearing under the same name]

1 reference

https://pubmed.ncbi.nlm.nih.gov/16960809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

KINDRED SHOWING CONGENITAL ABSENCE OF THE DERMAL RIDGES (FINGERPRINTS) AND ASSOCIATED ANOMALIES

1 reference

https://pubmed.ncbi.nlm.nih.gov/16960809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epidermolysis Bullosa Simplex with mottled pigmentation: mutation analysis in the first reported Hispanic pedigree with the largest single generation of affected individuals to date

1 reference

https://pubmed.ncbi.nlm.nih.gov/16960809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel keratin 14 mutations in patients with severe recessive epidermolysis bullosa simplex

1 reference

https://pubmed.ncbi.nlm.nih.gov/16960809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Gene for Naegeli–Franceschetti–Jadassohn Syndrome Maps to 17q21

1 reference

https://pubmed.ncbi.nlm.nih.gov/16960809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

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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

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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