Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
Filter
  • FAMILY  (16)
Collection
Keywords
  • 1
    Keywords: EXPRESSION ; Germany ; PATHWAY ; COMMON ; COHORT ; EPIDEMIOLOGY ; GENE ; GENES ; DIFFERENTIATION ; PATIENT ; FAMILY ; DISORDER ; MOUSE ; IDENTIFICATION ; MUTATION ; MUTATIONS ; PHENOTYPE ; CHROMOSOMAL LOCALIZATION ; molecular epidemiology ; HETEROGENEITY ; DISORDERS ; FAMILIES ; USA ; GENOMIC STRUCTURE ; GENETIC-HETEROGENEITY ; EPIDERMIS-TYPE LIPOXYGENASES ; 12R-LIPOXYGENASE ; 12(R)-LIPOXYGENASE ALOX12B ; ERYTHRODERMA
    Abstract: In recent years several new genes for autosomal recessive congenital ichthyosis (ARCI) have been identified. However, little is known about the molecular epidemiology and pathophysiology of this genetically and clinically heterogeneous group of severe disorders of keratinization. ARCI is characterized by intense scaling of the whole integument often associated with erythema. We and others have shown that mutations in ALOX12B and ALOXE3, coding for the lipoxygenases 12R-LOX and eLOX-3 predominantly synthesized in the epidermis, can underlie this rare condition. Here we have surveyed a large group of 250 patients with ARCI for mutations in these two genes. We have identified 11 different previously unreported mutations in ALOX12B and ALOXE3 in 21 ARCI patients from 19 unrelated families and demonstrated that mutations in the two genes are the second most common cause for ARCI in this cohort of patients. Examination of the molecular data revealed allelic heterogeneity for ALOX12B and two mutational hotspots in ALOXE3. Functional analysis of all missense mutations and a splice site mutation demonstrated that complete loss of function of the enzymes underlies the phenotype. Our findings further establish the pivotal role of the 12-lipoxygenase pathway during epidermal differentiation. Journal of Investigative Dermatology (2009) 129, 1421-1428; doi:10.1038/jid.2008.409; published online 8 January 2009
    Type of Publication: Journal article published
    PubMed ID: 19131948
    Signatur Availability
    BibTip Others were also interested in ...
  • 2
    Keywords: EXPRESSION ; Germany ; human ; CDNA ; GENE ; GENES ; HYBRIDIZATION ; PROTEIN ; PROTEINS ; transcription ; FAMILY ; TRANSCRIPTION FACTOR ; primary ; DOMAIN ; BINDING ; MEMBER ; MEMBERS ; SEQUENCE ; SEQUENCES ; chromosome ; MOUSE ; TRANSCRIPTION FACTORS ; IDENTIFICATION ; IN-SITU ; AMPLIFICATION ; PROMOTER ; ELEMENTS ; HEAT-SHOCK ; DATABASE ; REGION ; FIBER ; REGIONS ; keratin ; isolation ; DOMAINS ; GENE DOMAIN ; FOLLICLE ; HAIR-FOLLICLES ; CLUSTER ; HUMAN TYPE-I ; PSEUDOGENES ; CALCIUM-BINDING PROTEIN ; HOXC13 ; cDNA,gene expression,hair follicle,in situ hybridization,keratin ; CYSTEINE-RICH PROTEINS ; HUMAN-CHROMOSOME 21
    Abstract: Analysis of the EBI/GeneBank database using nonhuman hair keratin associated protein (KAP) gene sequences as a query resulted in the identification of two human KAP gene domains on chromosome 21, one of which, located at 21q22.1, has recently been characterized. The second domain presented here, an approximately 90 kb domain on chromosome 21q23, harbored 16 KAP genes and two KAP pseudogenes. By comparison with known sheep and mouse KAP families, these genes could be assigned to two KAP families, KAP10 and KAP12, with the KAP10 family (12 members) being distinctly larger than the KAP12 family (four members). Systematic cDNA/3' rapid amplification of cDNA ends isolation studies using human scalp mRNA led to the identification of eight KAP10 and two KAP12 cDNA sequences. In situ hybridization analyses of human anagen hair follicles using specific 3'-noncoding sequences of the various KAP10/KAP12 genes revealed mRNA expression of nearly all KAP10 and KAP12 members exclusively in a narrow region of the middle portion of the hair fiber cuticle. Bioinformatic analyses of the promoter regions of the KAP10/KAP12 genes demonstrated several enhancer elements that were present in nearly all of the KAP genes. Primary among these were binding elements for the ETS, heat shock factor, AML, and HOX families of transcription factors
    Type of Publication: Journal article published
    PubMed ID: 14962103
    Signatur Availability
    BibTip Others were also interested in ...
  • 3
    Keywords: ANGIOGENESIS ; CANCER ; EXPRESSION ; INVASION ; proliferation ; SURVIVAL ; tumor ; CELL-PROLIFERATION ; MICROVESSEL DENSITY ; DENSITY ; GENE ; GENES ; TUMORS ; PATIENT ; ACTIVATION ; FAMILY ; prognosis ; PROGRESSION ; MUTATION ; metastases ; MELANOMA ; MUTATIONS ; ONCOGENE ; CHILDREN ; CUTANEOUS MELANOMA ; INITIATION ; BRAF ; N-RAS ; Ras ; neuroblastoma ; RE ; PATIENT SURVIVAL ; cell proliferation ; CODON ; CUTANEOUS MELANOMAS ; Ki-67 ; NEVI ; RAS MUTATIONS ; VERTICAL GROWTH-PHASE
    Abstract: Previous studies have shown frequent mutations in the BRAF (V-raf murine sarcoma viral oncogene homolog B1) or NRAS ( neuroblastoma RAS viral [V-ras] oncogene homolog) genes in cutaneous melanoma, but the relationship between these alterations and tumor cell proliferation has not been examined in human melanoma. In our study of 51 primary nodular melanomas and 18 paired metastases, we found mutations in BRAF ( codon 600, previously denoted 599) in 15 primary tumors (29%) and eight metastases (44%). The figures for NRAS mutations were 27% and 22%, respectively. Mutations in BRAF and NRAS genes were mutually exclusive in all but one case, and were maintained from primary tumors through their metastases. Mutations, however, were not associated with tumor cell proliferation by Ki-67 expression, tumor thickness, microvessel density, or vascular invasion, and there were no differences in patient survival. Although BRAF and NRAS mutations are likely to be important for the initiation and maintenance of some melanomas, other factors might be more significant for proliferation and prognosis in subgroups of aggressive melanoma
    Type of Publication: Journal article published
    PubMed ID: 16098042
    Signatur Availability
    BibTip Others were also interested in ...
  • 4
    Keywords: EXPRESSION ; COMBINATION ; GENE ; PROTEIN ; PROTEINS ; DIFFERENTIATION ; COMPLEX ; COMPLEXES ; FAMILY ; DOMAIN ; chromosome ; ACID ; intermediate filaments ; INTERMEDIATE-FILAMENTS ; CALCIUM ; epidermis ; CORNIFIED CELL-ENVELOPE ; BARRIER FUNCTION ; TERMINAL DIFFERENTIATION ; HUMAN SKIN ; intermediate filament ; keratinocyte ; HAIR FOLLICLE ; AMINO-ACID ; hair ; GENE FAMILY ; SWITZERLAND ; STRUCTURAL PROTEINS ; ENVELOPE ; fused gene ; HUMAN-CHROMOSOME 1Q21 ; KERATINOCYTE TRANSGLUTAMINASE ; LORICRIN ; lq21 ; PROFILAGGRIN ; repetin
    Abstract: The human repetin gene is a member of the "fused" gene family and localized in the epidermal differentiation complex on chromosome 1q21. The "fused" gene family comprises profilaggrin, trichohyalin, repetin, hornerin, the profilaggrin-related protein and a protein encoded by c1orf10. Functionally, these proteins are associated with keratin intermediate filaments and partially crosslinked to the cell envelope (CE). Here, we report the isolation and characterization of the human repetin gene and of its protein product. The repetin protein of 784 amino acids contains EF (a structure resembling the E helix-calcium-binding loop-F helix domain of parvalbumin) hands of the S100 type and internal tandem repeats typical for CE precursor proteins, a combination which is characteristic for "fused" proteins. Repetin expression is scattered in the normal epidermis but strong in the acrosyringium, the inner hair root sheat and in the filiform papilli of the tongue. Ultrastructurally, repetin is a component of cytoplasmic non-membrane "keratohyalin" F-granules in the stratum granulosum of normal epidermis, similar to profilaggrin. Finally, we show that EF hands are functional and reversibly bind Ca2+. Our results indicate that repetin is indeed a member of the fused gene family similar to the prototypical members profilaggrin and trichohyalin
    Type of Publication: Journal article published
    PubMed ID: 15854042
    Signatur Availability
    BibTip Others were also interested in ...
  • 5
    Keywords: RECEPTOR ; CELLS ; EXPRESSION ; GROWTH ; GROWTH-FACTOR ; IN-VITRO ; INVASION ; tumor ; TUMOR-CELLS ; Germany ; VITRO ; SYSTEM ; SYSTEMS ; ENZYMES ; TISSUE ; MECHANISM ; FAMILY ; INDUCTION ; mechanisms ; fibroblasts ; ALPHA ; antibodies ; antibody ; PROGRESSION ; METASTASIS ; NUDE-MICE ; MELANOMA ; DEGRADATION ; ANTAGONIST ; HUMAN DERMAL FIBROBLASTS ; MATRIX ; TUMOR INVASION ; collagen ; MATRIX METALLOPROTEINASES ; MELANOMA-CELLS ; TUMORIGENICITY ; regulation ; interaction ; basic fibroblast growth factor ; bFGF ; dermal fibroblasts ; IL-1 alpha ; MALIGNANT MELANOMAS ; TIMP-1 ; TISSUE INHIBITOR
    Abstract: Tumor invasion and metastasis of melanoma have been shown to require proteolytic degradation of the extracellular environment, achieved primarily by enzymes of the matrix metalloproteinases (MMP) family. Increased enzyme activity is localized at the border of tumor cells and the adjacent peritumoral connective tissue, emphasizing the crucial role of tumor-stroma interactions in the regulation of MMP activity. To analyze whether direct cell-cell contacts of melanoma cells and stromal fibroblasts or whether soluble factors, secreted by melanoma cells are involved in the regulation of MMP, we used different in vitro co-culture systems. Both direct and indirect co-cultures of high invasive BLM melanoma cells and human dermal fibroblasts resulted in an induction of pro-MMP-1 synthesis. Medium conditioned by BLM cells strongly induced pro-MMP-1 synthesis in fibroblasts, indicating the importance of diffusible factors for this induction. Competition by recombinant human interleukin (IL)-1 receptor antagonist, neutralizing IL-1alpha and basic fibroblast growth factor (bFGF) antibodies, resulted in a concentration-dependent reduction of pro-MMP-1 synthesis. Taken together, our results indicate an essential role for soluble factors, mainly IL-1alpha and bFGF, in the stimulation of dermal fibroblasts by human melanoma cells to secrete MMP-1
    Type of Publication: Journal article published
    PubMed ID: 15737206
    Signatur Availability
    BibTip Others were also interested in ...
  • 6
    Keywords: RECEPTOR ; CELLS ; EXPRESSION ; GROWTH ; CELL ; Germany ; human ; PROSTATE ; TOOL ; GENE ; DIFFERENTIATION ; COMPLEX ; COMPLEXES ; MOTIFS ; FAMILY ; MARKER ; BINDING ; MEMBER ; MEMBERS ; SEQUENCE ; TYPE-1 ; TARGET ; ELEMENT ; ASSAY ; VECTOR ; MOBILITY ; PROMOTER ; ELEMENTS ; keratin ; RESPONSIVE ELEMENT ; FOLLICLE ; HAIR-FOLLICLES ; HUMAN SKIN ; CONSTITUTIVE EXPRESSION ; HUMAN TYPE-I ; ABSENCE ; MOTIF ; keratins ; HAIR FOLLICLE ; HOMOLOGY ; adrogens ; ANTIGEN GENE ; DERMAL PAPILLA CELLS ; IMMUNOCYTOCHEMICAL LOCALIZATION
    Abstract: Previous work had shown that most members of the complex human hair keratin family were expressed in terminal scalp hairs. An exception to this rule was the type I hair keratin hHa7, which was only detected in some but not all vellus hairs of the human scalp (Langbein et al, 1999). Here we show that hHa7 exhibits constitutive expression in medullary cells of all types of male and female sexual hairs. Medullated beard, axillary, and pubic hairs arise during puberty from small, unmedullated vellus hairs under the influence of circulating androgens. This suggested an androgen-controlled expression of the hHa7 gene. Further evidence for this assumption was provided by the demonstration of androgen receptor (AR) expression in the nuclei of medullary cells of beard hairs. Moreover, homology search for the semipalindromic androgen receptor-binding element (ARE) consensus sequence GG(A)/(T)ACAnnnTGTTCT in the proximal hHa7 promoter revealed three putative ARE motifs. Electrophoretic mobility shift assays demonstrated the specific binding of AR to all three hHa7 AREs. Their function as AR-responsive elements, either individually or in concert within the hHa7 promoter, could be further confirmed by transfection studies with or without an AR expression vector in PtK2 and prostate PC3-Arwt cells, respectively in the presence or absence of a synthetic androgen. Our study detected hHa7 as the first gene in hair follicle trichocytes whose expression appears to be directly regulated by androgens. As such, hHa7 represents a marker for androgen action on hair follicles and might be a suitable tool for investigations of androgen-dependent hair disorders
    Type of Publication: Journal article published
    Signatur Availability
    BibTip Others were also interested in ...
  • 7
    Keywords: EXPRESSION ; Germany ; human ; COMMON ; DISEASE ; RISK ; FAMILY ; SKIN ; polymorphism ; etiology ; MALES ; RISK FACTOR ; REGION ; REGIONS ; MUTATIONS ; keratin ; INDIVIDUALS ; BODY ; FOLLICLE ; HUMAN TYPE-I ; SEGMENT ; BODIES ; CORTEX ; HAIR FOLLICLE ; PROPENSITIES ; ethnic ; genodermatoses ; HHB6 ; MONILETHRIX ; shaving
    Abstract: Pseudofolliculitis barbae (PFB) is a common hair disorder characterized by a pustular foreign body inflammatory reaction that is induced by ingrown hairs of the facial and submental (barbea) regions after regular shaving. It occurs predominantly in black males, while it is rather rare and usually far less severe in Caucasian males. Black individuals have a higher propensity of developing PFB due to their genetic predisposition for curly hair which inherently possesses a much higher risk of growing back into the skin than straight or wavy hair. The PFB process is, however, not gender dependent nor restricted to the face, but can occur in any skin region once regular shaving, plucking, or other traumatic means of hair removal are instituted. Through a family study and a large-scale investigation of randomly sampled PFB-affected and -unaffected individuals, this study demonstrates that an unusual single-nucleotide polymorphism, which gives rise to a disruptive Ala12Thr substitution in the 1A alpha-helical segment of the companion layer-specific keratin K6hf of the hair follicle, is partially responsible for the phenotypic expression and represents an additional genetic risk factor for PFB
    Type of Publication: Journal article published
    PubMed ID: 15086549
    Signatur Availability
    BibTip Others were also interested in ...
  • 8
    Keywords: Germany ; GENE ; GENES ; PROTEIN ; FAMILY ; DOMAIN ; polymorphism ; Jun ; CLUSTER ; RE ; hair ; PROTEIN GENES ; SIZE
    Type of Publication: Journal article published
    PubMed ID: 15999398
    Signatur Availability
    BibTip Others were also interested in ...
  • 9
    Keywords: EXPRESSION ; Germany ; CDNA ; GENE ; GENES ; FAMILY ; DOMAIN ; SKIN ; SEQUENCE ; SEQUENCES ; chromosome ; polymorphism ; VARIANTS ; IDENTIFICATION ; gene expression ; HUMANS ; HUMAN GENOME ; CONSERVATION ; INTERMEDIATE-FILAMENTS ; keratin ; epidermis ; GENE DOMAIN ; human hair follicle ; INNER-ROOT-SHEATH ; PROGRAM ; RE ; HAIR FOLLICLE ; EPITHELIAL KERATIN ; hair ; GENE FAMILY ; SUBTYPE ; FULL-LENGTH HUMAN ; SUBTYPES ; SUBDOMAIN ; SIZE ; sequencing ; CYTOKERATIN GENES ; keratin 6
    Abstract: The recent completion of a reference sequence of the human genome now allows a complete characterization of the type II keratin gene domain on chromosome 12q13.13. This, domain, approximately 780 kb in size, is present on nine bacterial artificial chromosome clones sequenced by the Human Genome Sequencing Project. The type II keratin domain contains 27 keratin genes and eight pseudogenes. Twenty-three of these genes and four pseudogenes have been previously reported. This study describes, in addition to the genomic sequencing of the K2p gene and the bioinformatic identification of four keratin pseudogenes, the characterization of cDNA corresponding to three previously undescribed keratin genes K1b, K6l, and Kb20, as well as cDNA sequences for the previously described keratin genes hHb2, hHb4, and K3. Northern analysis of the new keratins K1b, K6l, K5b, and Kb20 using mRNA of major organs as well as of specific epithelial subtypes shows singular expression of these keratins in skin, hair follicles and, for K5b and Kb20, in tongue, respectively. In addition, the obvious discrepancies between the current reference sequence of the human genome and the previously described gene/cDNA sequences for K6c, K6d, K6e, K6f, K6h are investigated, leading to the conclusion that K6c, K6d as well as K6e, K6f are probably polymorphic variants of K6a and K6h, respectively. All 26 human type II keratins found on this domain as well as K18, dtype 1 Keratin, are identified at the genomic and transcriptional level. This appears to be the total complement of functional type II keratins in humans
    Type of Publication: Journal article published
    PubMed ID: 15737194
    Signatur Availability
    BibTip Others were also interested in ...
  • 10
    Keywords: CELLS ; EXPRESSION ; GROWTH ; IN-VITRO ; proliferation ; Germany ; VITRO ; SYSTEM ; transcription ; DIFFERENTIATION ; TISSUE ; MICE ; ACTIVATION ; COMPLEX ; COMPLEXES ; FAMILY ; TRANSCRIPTION FACTOR ; KERATINOCYTES ; SKIN ; C-JUN ; fibroblasts ; treatment ; SIGNAL ; TRANSGENIC MICE ; STRESS ; REPAIR ; EPITHELIAL-CELLS ; KINETICS ; REGULATOR ; COLONY-STIMULATING FACTOR ; INTERCELLULAR COMMUNICATION ; TISSUE-SPECIFIC EXPRESSION ; inflammation ; CYTOKINE ; FAMILIES ; MICE LACKING ; KERATINOCYTE DIFFERENTIATION ; IMMUNE-SYSTEM ; LEVEL ; REGULATED GENE ; macrophage ; inflammatory cells ; COLLAGEN GEL ; GROWTH-STIMULATORY ACTIVITY ; TRANSCRIPTION FACTOR AP-1
    Abstract: The cutaneous response to injury and stress comprises a temporary change in the balance between epidermal proliferation and differentiation as well as an activation of the immune system. Soluble factors play an important role in the regulation of these complex processes by coordinating the intercellular communication between keratinocytes, fibroblasts, and inflammatory cells. In this study, we demonstrate that JunB, a member of the activator protein-1 transcription factor family, is an important regulator of cytokine expression and thus critically involved in the cutaneous response to injury and stress. Mice lacking JunB in the skin develop normally, indicating that JunB is neither required for cutaneous organogenesis, nor homeostasis. However, upon wounding and treatment with the phorbol ester 12-O-decanoyl-phorbol-13-acetate, JunB-deficiency in the skin likewise resulted in pronounced epidermal hyperproliferation, disturbed differentiation, and prolonged inflammation. Furthermore, delayed tissue remodelling was observed during wound healing. These phenotypic skin abnormalities were associated with JunB-dependent alterations in expression levels and kinetics of important mediators of wound repair, such as granulocyte macrophage colony-stimulating factor, growth-regulated protein-1, macrophage inflammatory protein-2, and lipocalin-2 in both the dermal and epidermal compartment of the skin, and a reduced ability of wound contraction of mutant dermal fibroblasts in vitro
    Type of Publication: Journal article published
    PubMed ID: 16439969
    Signatur Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...