ichthyosis/proline

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A novel threonine --> proline mutation at the end of 2B rod domain in the keratin 2e chain in ichthyosis bullosa of Siemens.

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We report a novel mutation in a case of ichthyosis bullosa of Siemens that results in a threonine --> proline substitution in a novel location, codon 485 in a highly conserved residue position of the IATYRKLLEGE consensus motif at the end of the 2B rod domain segment of the keratin 2e chain. The

Cornified cell envelope proteins and keratins are normally distributed in harlequin ichthyosis.

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Long-term survivors of harlequin ichthyosis (HI) have raised a controversy over the differences between HI and lamellar ichthyosis (LI). Abnormal lamellar granules and the failure of conversion from profilaggrin to filaggrin have been reported in HI. On the other hand, malformation of the cornified

Profile of epidermal metabolic activity in autosomal dominant ichthyosis and small bowel disorders.

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The in vitro incorporation of 14C acetate by the epidermis has been studied in patients with autosomal dominant ichthyosis and in patients with a dry, itchy, slightly scaly skin associated with a disorder of the small bowel. Analysis of 14C acetate containing lipid moieties by thin layer

Identification of mutations in the transglutaminase 1 gene in lamellar ichthyosis.

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Lamellar ichthyosis (LI) is an autosomal recessive disorder of cornification. Mutations in the transglutaminase 1 gene (TGM1) have been identified in several families with this disorder. We analyzed two unrelated families with offspring affected with LI. Family 1 included affected monozygotic twins,

Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype.

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Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder due to a defect in the nucleotide excision repair (NER) DNA repair pathway, characterized by severe sunburn development of freckles, premature skin aging, and susceptibility to develop cancers at an average age of eight. XP is an

Differentiation-associated localization of small proline-rich protein in normal and diseased human skin.

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The expression of SPRR (small proline-rich protein) was investigated in normal human skin and in diseased skin from patients with psoriasis, squamous cell carcinoma, basal cell epithelioma, naevus pigmentosus, ichthyosis vulgaris and several inflammatory skin diseases, by immunohistochemical

Sjögren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients.

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Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. Patients with SLS have deficient activity of fatty aldehyde dehydrogenase (FALDH), an enzyme involved in long-chain fatty alcohol

Solution structure and backbone dynamics of the XPC-binding domain of the human DNA repair protein hHR23B.

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Human cells contain two homologs of the yeast RAD23 protein, hHR23A and hHR23B, which participate in the DNA repair process. hHR23B houses a domain (residues 277-332, called XPCB) that binds specifically and directly to the xeroderma pigmentosum group C protein (XPC) to initiate nucleotide excision

Homeostatic Function of Dermokine in the Skin Barrier and Inflammation.

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Dermokine is a chiefly skin-specific secreted glycoprotein localized in the upper epidermis and its family consists of three splice variants in mice and five in humans. To investigate the pathophysiological impact of dermokine, we generated mice deficient for two (βγ) or all dermokine isoforms

A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden.

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Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by congenital ichthyosis, spastic di- or tetraplegia, and mental retardation. SLS has been reported to occur in many populations but the highest incidence is in the north of Sweden. The gene causing SLS encodes a fatty

Collodion baby: ultrastructure and distribution of cornified cell envelope proteins and keratins.

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The pathogenesis of 'collodion baby' has not been clarified yet, and this descriptive term is thought to include several heterogeneous conditions. We report a collodion baby whose clinical features had changed to those of lamellar ichthyosis (LI) as the patient got older. By electron microscopy,

Epidermal metabolism in heredopathia atactica polyneuritiformis (Refsum's disease).

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The epidermal metabolic activity of a patient with a marked generalized ichthyosis associated with heredopathia atactica polyneuritiformis has been investigated. Both the in vivo labeling index and the in vitro rates of incorporation of radioactively labeled thymidine, proline, histidine and acetate

p53 gene mutations in skin cancers with underlying disorders.

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Mutations in p53, a tumor suppressor gene, are one of the most common genetic lesions of human cancers. The relationship between p53 gene mutation and ultraviolet (UV) light has been demonstrated in skin cancers of sun-exposed sites. In this study, genomic DNA from 12 skin cancers was screened for

Gene polymorphisms predict toxicity to neoadjuvant therapy in patients with rectal cancer.

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BACKGROUND Toxicity from neoadjuvant chemoradiation therapy (NT) increases morbidity and limits therapeutic efficacy in patients with rectal cancer. The objective of this study was to determine whether specific polymorphisms in genes associated with rectal cancer response to NT were correlated with

Multiple functions of the SNARE protein Snap29 in autophagy, endocytic, and exocytic trafficking during epithelial formation in Drosophila.

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How autophagic degradation is linked to endosomal trafficking routes is little known. Here we screened a collection of uncharacterized Drosophila mutants affecting membrane transport to identify new genes that also have a role in autophagy. We isolated a loss of function mutant in Snap29

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