The Experts below are selected from a list of 303 Experts worldwide ranked by ideXlab platform
Hans Christian Hennies - One of the best experts on this subject based on the ideXlab platform.
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Long-term faithful recapitulation of transglutaminase 1-deficient Lamellar Ichthyosis in a skin-humanized mouse model, and insights from proteomic studies.
Journal of Investigative Dermatology, 2012Co-Authors: Karin Aufenvenne, Robert H. Rice, Ingrid Hausser, Vinzenz Oji, Hans Christian Hennies, Marcela Del Rio, Heiko Traupe, Fernando LarcherAbstract:Abbreviations: CE, cornified envelope; DEJ, dermoepidermal junction; KPRP, keratinocyte proline-rich protein; LI, Lamellar Ichthyosis; NMF, natural moisturizing factor; TEWL, transepidermal water loss; TG1, transglutaminase 1
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Effective treatment of severe thermodysregulation by oral retinoids in a patient with recessive congenital Lamellar Ichthyosis.
Clinical and experimental dermatology, 2008Co-Authors: Holger A. Haenssle, Ingrid Hausser, Vinzenz Oji, Hans Christian Hennies, Heiko Traupe, A. Finkenrath, C. Neumann, Steffen EmmertAbstract:Ichthyoses are a heterogenous group of keratinization disorders, which are often associated with hypohidrosis. We report a 42-year-old man with generalized thick brownish scales and severe thermodysregulation leading to heat intolerance. Based on clinical, histological and genetic findings, autosomal recessive Lamellar Ichthyosis (ultrastructural electron microscopy type III) was diagnosed. Severe generalized hypohidrosis both at rest and after physical exercise (bicycle ergometer) was documented. Oral treatment with retinoids not only markedly improved the skin condition but also restarted the ability of the patient to thermoregulate by perspiration. The normalization of sweat-gland function was confirmed by gravimetrically measuring sweat rates before and after retinoid treatment. This report shows that retinoid therapy can markedly improve the quality of life in patients with generalized Lamellar Ichthyosis by reconstitution of perspiration.
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genotype phenotype correlation in autosomal recessive Lamellar Ichthyosis
American Journal of Human Genetics, 1998Co-Authors: Hans Christian Hennies, Wolfgang Küster, Victor Wiebe, Alice Krebsová, André ReisAbstract:Autosomal recessive Lamellar Ichthyosis is a severe congenital disorder of keratinization, characterized by variable erythema of the whole body surface and by different scaling patterns. Recently, mutations have been identified in patients with Lamellar Ichthyosis in the TGM1 gene coding for keratinocyte transglutaminase, and a second locus has been mapped to chromosome 2. We have now analyzed the genotype/phenotype correlation in a total of 14 families with Lamellar Ichthyosis. Linkage analyses using microsatellites in the region of the TGM1 gene confirmed genetic heterogeneity. In patients not linked to the TGM1 gene, the second region identified on chromosome 2 and a further candidate region on chromosome 20 were excluded, confirming as well the existence of at least three loci for Lamellar Ichthyosis. Sequence analyses of the TGM1 gene in families compatible with linkage to this locus revealed seven different missense mutations, five of these unpublished so far, and one splice mutation. No genotype/phenotype correlation for mutations in the TGM1 gene was found in this group of patients, which included two unrelated patients homozygous for the same mutation. Similarly, no clear difference in the clinical picture was seen between patients with TGM1 mutations and those unlinked to the TGM1 locus. Comparison of genetic and clinical classifications for patients with Lamellar Ichthyosis shows no consistency and thus indicates that clinical criteria currently in use cannot discriminate between the molecularly different forms of the disease.
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Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with Lamellar Ichthyosis
Human genetics, 1998Co-Authors: Hans Christian Hennies, Heiko Traupe, Victor Wiebe, Michael Raghunath, Melanie Vogel, Florian Velten, André ReisAbstract:Autosomal recessive Lamellar Ichthyosis is a clinically heterogeneous group of severe congenital keratinization disorders that is characterized by generalized hyperkeratosis and variable erythema. About half of the patients have mutations in the TGM1 gene, which encodes the keratinocyte transglutaminase. Linkage studies have shown that at least two further loci for autosomal recessive Lamellar Ichthyosis must exist. We present here two patients with Lamellar Ichthyosis caused by mutations in the TGM1 gene. The first patient is compound heterozygous for the novel missense mutation C53S and the splice mutation A3447G. The second patient, a child of consanguineous parents from Tunisia, is homozygous for the unknown nonsense mutation W263X. This is the first report of a mutation, C53S, that affects the region of the keratinocyte transglutaminase that is essential for anchorage of the enzyme to the plasma membrane. A novel, rapid in situ transglutaminase activity assay revealed the absence of keratinocyte transglutaminase activity in both patients. The mutations described are hence causative for the Ichthyosis phenotype.
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Genotype/Phenotype Correlation in Autosomal Recessive Lamellar Ichthyosis
American journal of human genetics, 1998Co-Authors: Hans Christian Hennies, Wolfgang Küster, Victor Wiebe, Alice Krebsová, André ReisAbstract:Autosomal recessive Lamellar Ichthyosis is a severe congenital disorder of keratinization, characterized by variable erythema of the whole body surface and by different scaling patterns. Recently, mutations have been identified in patients with Lamellar Ichthyosis in the TGM1 gene coding for keratinocyte transglutaminase, and a second locus has been mapped to chromosome 2. We have now analyzed the genotype/phenotype correlation in a total of 14 families with Lamellar Ichthyosis. Linkage analyses using microsatellites in the region of the TGM1 gene confirmed genetic heterogeneity. In patients not linked to the TGM1 gene, the second region identified on chromosome 2 and a further candidate region on chromosome 20 were excluded, confirming as well the existence of at least three loci for Lamellar Ichthyosis. Sequence analyses of the TGM1 gene in families compatible with linkage to this locus revealed seven different missense mutations, five of these unpublished so far, and one splice mutation. No genotype/phenotype correlation for mutations in the TGM1 gene was found in this group of patients, which included two unrelated patients homozygous for the same mutation. Similarly, no clear difference in the clinical picture was seen between patients with TGM1 mutations and those unlinked to the TGM1 locus. Comparison of genetic and clinical classifications for patients with Lamellar Ichthyosis shows no consistency and thus indicates that clinical criteria currently in use cannot discriminate between the molecularly different forms of the disease.
André Reis - One of the best experts on this subject based on the ideXlab platform.
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genotype phenotype correlation in autosomal recessive Lamellar Ichthyosis
American Journal of Human Genetics, 1998Co-Authors: Hans Christian Hennies, Wolfgang Küster, Victor Wiebe, Alice Krebsová, André ReisAbstract:Autosomal recessive Lamellar Ichthyosis is a severe congenital disorder of keratinization, characterized by variable erythema of the whole body surface and by different scaling patterns. Recently, mutations have been identified in patients with Lamellar Ichthyosis in the TGM1 gene coding for keratinocyte transglutaminase, and a second locus has been mapped to chromosome 2. We have now analyzed the genotype/phenotype correlation in a total of 14 families with Lamellar Ichthyosis. Linkage analyses using microsatellites in the region of the TGM1 gene confirmed genetic heterogeneity. In patients not linked to the TGM1 gene, the second region identified on chromosome 2 and a further candidate region on chromosome 20 were excluded, confirming as well the existence of at least three loci for Lamellar Ichthyosis. Sequence analyses of the TGM1 gene in families compatible with linkage to this locus revealed seven different missense mutations, five of these unpublished so far, and one splice mutation. No genotype/phenotype correlation for mutations in the TGM1 gene was found in this group of patients, which included two unrelated patients homozygous for the same mutation. Similarly, no clear difference in the clinical picture was seen between patients with TGM1 mutations and those unlinked to the TGM1 locus. Comparison of genetic and clinical classifications for patients with Lamellar Ichthyosis shows no consistency and thus indicates that clinical criteria currently in use cannot discriminate between the molecularly different forms of the disease.
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Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with Lamellar Ichthyosis
Human genetics, 1998Co-Authors: Hans Christian Hennies, Heiko Traupe, Victor Wiebe, Michael Raghunath, Melanie Vogel, Florian Velten, André ReisAbstract:Autosomal recessive Lamellar Ichthyosis is a clinically heterogeneous group of severe congenital keratinization disorders that is characterized by generalized hyperkeratosis and variable erythema. About half of the patients have mutations in the TGM1 gene, which encodes the keratinocyte transglutaminase. Linkage studies have shown that at least two further loci for autosomal recessive Lamellar Ichthyosis must exist. We present here two patients with Lamellar Ichthyosis caused by mutations in the TGM1 gene. The first patient is compound heterozygous for the novel missense mutation C53S and the splice mutation A3447G. The second patient, a child of consanguineous parents from Tunisia, is homozygous for the unknown nonsense mutation W263X. This is the first report of a mutation, C53S, that affects the region of the keratinocyte transglutaminase that is essential for anchorage of the enzyme to the plasma membrane. A novel, rapid in situ transglutaminase activity assay revealed the absence of keratinocyte transglutaminase activity in both patients. The mutations described are hence causative for the Ichthyosis phenotype.
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Genotype/Phenotype Correlation in Autosomal Recessive Lamellar Ichthyosis
American journal of human genetics, 1998Co-Authors: Hans Christian Hennies, Wolfgang Küster, Victor Wiebe, Alice Krebsová, André ReisAbstract:Autosomal recessive Lamellar Ichthyosis is a severe congenital disorder of keratinization, characterized by variable erythema of the whole body surface and by different scaling patterns. Recently, mutations have been identified in patients with Lamellar Ichthyosis in the TGM1 gene coding for keratinocyte transglutaminase, and a second locus has been mapped to chromosome 2. We have now analyzed the genotype/phenotype correlation in a total of 14 families with Lamellar Ichthyosis. Linkage analyses using microsatellites in the region of the TGM1 gene confirmed genetic heterogeneity. In patients not linked to the TGM1 gene, the second region identified on chromosome 2 and a further candidate region on chromosome 20 were excluded, confirming as well the existence of at least three loci for Lamellar Ichthyosis. Sequence analyses of the TGM1 gene in families compatible with linkage to this locus revealed seven different missense mutations, five of these unpublished so far, and one splice mutation. No genotype/phenotype correlation for mutations in the TGM1 gene was found in this group of patients, which included two unrelated patients homozygous for the same mutation. Similarly, no clear difference in the clinical picture was seen between patients with TGM1 mutations and those unlinked to the TGM1 locus. Comparison of genetic and clinical classifications for patients with Lamellar Ichthyosis shows no consistency and thus indicates that clinical criteria currently in use cannot discriminate between the molecularly different forms of the disease.
Heiko Traupe - One of the best experts on this subject based on the ideXlab platform.
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Long-term faithful recapitulation of transglutaminase 1-deficient Lamellar Ichthyosis in a skin-humanized mouse model, and insights from proteomic studies.
Journal of Investigative Dermatology, 2012Co-Authors: Karin Aufenvenne, Robert H. Rice, Ingrid Hausser, Vinzenz Oji, Hans Christian Hennies, Marcela Del Rio, Heiko Traupe, Fernando LarcherAbstract:Abbreviations: CE, cornified envelope; DEJ, dermoepidermal junction; KPRP, keratinocyte proline-rich protein; LI, Lamellar Ichthyosis; NMF, natural moisturizing factor; TEWL, transepidermal water loss; TG1, transglutaminase 1
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Autosomal dominant Lamellar Ichthyosis exhibits an abnormal scale lipid pattern.
Clinical genetics, 2008Co-Authors: Bodo C. Melnik, W. Küster, J. Hollmann, Gerd Plewig, Heiko TraupeAbstract:Autosomal dominant Lamellar Ichthyosis (ADLI) is a recently recognized genetic skin disorder. Clinically and histologically, it cannot be distinguished with certainty from the more frequent autosomal recessive Lamellar Ichthyosis (ARLI), which in itself may still be heterogeneous. By ultrastructural examination of ADLI a prominent transforming zone between the stratum granulosum and stratum corneum and lipid inclusions in the stratum corneum have been observed. Using sequential high-performance thin-layer chromatography, we studied the plantar scale lipid pattern of two patients, mother and daughter, affected with ADLI. We found a distinctive alteration in the relative composition of the scale lipid pattern characterized by excessive amounts of free fatty acids, triglycerides, elevated n-alkanes, reduced free sterols and decreased total ceramides. This scale lipid profile clearly differs from that of the erythrodermic and non-erythematous variants of ARLI and confirms that this disorder is a distinct entity of the heterogeneous group of Lamellar ichthyoses.
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autosomal dominant Lamellar Ichthyosis a new skin disorder
Clinical Genetics, 2008Co-Authors: Heiko Traupe, Gerhard Kolde, Rudolf HappleAbstract:: Lamellar Ichthyosis (nonbullous congenital Ichthyosis) has been explained as an autosomal recessive trait. We have found an autosomal dominant type of this disorder. Four patients, belonging to three consecutive generations of a family, were affected from birth. The disorder was characterized by large, dark brown scales covering the entire body including flexural folds, palms and soles. X-linked recessive Ichthyosis was excluded by clinical appearance, pattern of transmission and normal electrophoretic mobility of beta-lipoproteins. Autosomal dominant Ichthyosis vulgaris and bullous ichthyosiform erythroderma were excluded by the histological and ultrastructural features. In the absence of a positive family history, this skin disorder would have been taken for autosomal recessive Lamellar Ichthyosis. This new autosomal dominant type of Ichthyosis should be considered for differential diagnosis, when genetic counselling is given in a sporadic case of Lamellar Ichthyosis.
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Effective treatment of severe thermodysregulation by oral retinoids in a patient with recessive congenital Lamellar Ichthyosis.
Clinical and experimental dermatology, 2008Co-Authors: Holger A. Haenssle, Ingrid Hausser, Vinzenz Oji, Hans Christian Hennies, Heiko Traupe, A. Finkenrath, C. Neumann, Steffen EmmertAbstract:Ichthyoses are a heterogenous group of keratinization disorders, which are often associated with hypohidrosis. We report a 42-year-old man with generalized thick brownish scales and severe thermodysregulation leading to heat intolerance. Based on clinical, histological and genetic findings, autosomal recessive Lamellar Ichthyosis (ultrastructural electron microscopy type III) was diagnosed. Severe generalized hypohidrosis both at rest and after physical exercise (bicycle ergometer) was documented. Oral treatment with retinoids not only markedly improved the skin condition but also restarted the ability of the patient to thermoregulate by perspiration. The normalization of sweat-gland function was confirmed by gravimetrically measuring sweat rates before and after retinoid treatment. This report shows that retinoid therapy can markedly improve the quality of life in patients with generalized Lamellar Ichthyosis by reconstitution of perspiration.
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Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with Lamellar Ichthyosis
Human genetics, 1998Co-Authors: Hans Christian Hennies, Heiko Traupe, Victor Wiebe, Michael Raghunath, Melanie Vogel, Florian Velten, André ReisAbstract:Autosomal recessive Lamellar Ichthyosis is a clinically heterogeneous group of severe congenital keratinization disorders that is characterized by generalized hyperkeratosis and variable erythema. About half of the patients have mutations in the TGM1 gene, which encodes the keratinocyte transglutaminase. Linkage studies have shown that at least two further loci for autosomal recessive Lamellar Ichthyosis must exist. We present here two patients with Lamellar Ichthyosis caused by mutations in the TGM1 gene. The first patient is compound heterozygous for the novel missense mutation C53S and the splice mutation A3447G. The second patient, a child of consanguineous parents from Tunisia, is homozygous for the unknown nonsense mutation W263X. This is the first report of a mutation, C53S, that affects the region of the keratinocyte transglutaminase that is essential for anchorage of the enzyme to the plasma membrane. A novel, rapid in situ transglutaminase activity assay revealed the absence of keratinocyte transglutaminase activity in both patients. The mutations described are hence causative for the Ichthyosis phenotype.
Tamotsu Kanzaki - One of the best experts on this subject based on the ideXlab platform.
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Analyses of the transglutaminase 1 gene mutation and ultrastructural characteristics in a Japanese patient with Lamellar Ichthyosis.
Journal of dermatological science, 2000Co-Authors: Shinichi Yotsumoto, Kozo Yoneda, Masashi Akiyama, Tomoko Fukushige, Keiko Kobayashi, Takeyori Saheki, Tamotsu KanzakiAbstract:We described a Japanese female with Lamellar Ichthyosis whose transglutaminase 1 gene (TGM1 gene) was mutated. DNA sequence analysis revealed that the patient had a homozygous mutation, i.e. a point mutation from G to A at nucleotide 1494 resulting in the substitution of glycine for arginine at codon 143. Her mother was heterozygous for this mutation. In situ transglutaminase assay in the patient's skin showed loss of enzyme activity. Ultrastructural examination revealed incomplete formation of cornified cell envelopes and electron-dense materials adjacent to plasma membranes. These results suggest that defective transglutaminase activity caused by homozygous TGM1 gene mutation (G143R) results in disruption of cornified envelope assembly and the clinical phenotype of Lamellar Ichthyosis.
Robert H. Rice - One of the best experts on this subject based on the ideXlab platform.
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Long-term faithful recapitulation of transglutaminase 1-deficient Lamellar Ichthyosis in a skin-humanized mouse model, and insights from proteomic studies.
Journal of Investigative Dermatology, 2012Co-Authors: Karin Aufenvenne, Robert H. Rice, Ingrid Hausser, Vinzenz Oji, Hans Christian Hennies, Marcela Del Rio, Heiko Traupe, Fernando LarcherAbstract:Abbreviations: CE, cornified envelope; DEJ, dermoepidermal junction; KPRP, keratinocyte proline-rich protein; LI, Lamellar Ichthyosis; NMF, natural moisturizing factor; TEWL, transepidermal water loss; TG1, transglutaminase 1
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Cuticle cell defects in Lamellar Ichthyosis hair and anomalous hair shaft syndromes visualized after detergent extraction.
The Anatomical record, 1996Co-Authors: Robert H. Rice, Viviana J. Wong, Vera H. Price, Daniel Hohl, Kent E. PinkertonAbstract:Background The biochemical bases for fragility in most of the rare brittle hair shaft syndromes are unknown. The hypothesis being investigated in several syndromes is that the hair cuticle cells show defects in cross-linked protein features. Since transglutaminases stabilize protein structures by cross-linking them, hair from autosomal recessive Lamellar Ichthyosis patients lacking keratinocyte transglutaminase was examined to find whether this enzyme participates in hair shaft stabilization. Methods Hair shaft samples from patients afflicted with Lamellar Ichthyosis or several brittle hair syndromes were examined ultrastructurally by transmission electron microscopy after vigorous extraction with detergent and reducing agent to reveal cross-linked protein features. Results In hair cuticle cells from three patients with Lamellar Ichthyosis the marginal band (A layer) was present but nonuniform and subject to breakage, while in a fourth sample it was missing altogether. The exocuticle appeared less dense than in normal hair, consistent with extensive protein loss during detergent extraction. In cuticle cells from trichothiodystrophy hair, the exocuticle layer was essentially fully extractable in one sample, while in two others (from siblings) the exocuticle appeared less dense and the A layer was absent or greatly reduced in thickness. A sample of proximal trichorrhexis nodosa also displayed defects in cuticle cells, in which the endocuticle layer appeared subject to rupture. The outer cuticle cells in monilethrix hair displayed a thinning of the A layer and less dense exocuticle, while the cortex exhibited regions lacking remnant cell borders. Pili annulati hair displayed large gaps in the cortex, presumably reflecting the air-filled cavities characteristic of this syndrome, and wavy borders of some cuticle cells. Conclusions Observations with autosomal recessive Lamellar Ichthyosis hair indicate that keratinocyte transglutaminase has a major role in maturation of the cuticle but appears unnecessary for stabilization of cell borders in the cortex. Defective cross-linking was also evident in cuticle cells of trichothiodystrophy and monilethrix. © 1996 Wiley-Liss, Inc.
