Restriktive Dermopathiey

Groß, C.; Haußer, Ingrid; Wense, A. von der; Langner, C.; Simoens, W.; Bau, O.; Rompel, Rainer; Meyer, W.; Rüschoff, J.

doi:10.1007/s002920050373

Cited by 5 publications

(3 citation statements)

References 25 publications

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“…Es besteht eine charakteristische Fazies mit O‑förmigem Mund, abstehenden Augeninnenwinkeln, kleiner Nase und tief angesetzten Ohren. Knochendeformitäten liegen in Form von überdimensionierten Röhrenknochen, dysplastischen Klavikulae sowie Kontrakturen vor [ 34 ]. Durch die fetale Akinesie-Deformation-Sequenz kommt es zur pulmonalen Hypoplasie, weshalb die Kinder innerhalb der ersten Woche den Tod erleiden.…”

Section: Defekte In Der Kernlaminaunclassified

Progeroide Syndrome

Koschitzki,

Ivanova,

Berneburg

2023

Dermatologie

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ZusammenfassungProgeroide Syndrome (PS) sind durch das vorzeitige Auftreten von altersbedingten Symptomen und Krankheiten gekennzeichnet. PSs sind klinisch heterogen und manifestieren sich unter anderem durch Seh- und Hörverlust, Hautatrophie, Haarausfall, Neurodegeneration, Knochendeformitäten und kardiovaskuläre Defekte. Jüngste Fortschritte in der Molekularpathologie haben zu einem besseren Verständnis der Pathomechanismen dieser Krankheiten geführt. Die verantwortlichen genetischen Mutationen, sind funktionell mit der Erhaltung und Reparatur des Genoms verknüpft, was die ursächliche Rolle der Anhäufung von DNA(Desoxyribonukleinsäure)-Schäden bei der Alterung untermauert. Während einige dieser Gene für Proteine kodieren, die direkt an der DNA-Reparaturmaschinerie beteiligt sind, wie z. B. die Nukleotidexzisionsreparatur (NER), destabilisieren andere das Genom, indem sie die Stabilität der Kernhülle beeinträchtigen, wie z. B. Lamin A beim Hutchinson-Gilford-Progerie-Syndrom (HGPS), oder regulieren die DNA-Schadensreaktion (DDR), wie z. B. das Ataxia-teleangiectasia-mutierte (ATM) Gen. Die Untersuchung der Pathophysiologie progeroider Krankheiten hat zur Entwicklung potenzieller Behandlungen beigetragen.

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Section: Defekte In Der Kernlaminaunclassified

Progeroide Syndrome

Koschitzki,

Ivanova,

Berneburg

2023

Dermatologie

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“…Congenital Restrictive dermopathy is a severe congenital genodermatosis, a form of arthrogryposis multiplex, with approximately 80 cases reported worldwide, which is lethal mostly within the first weeks of life [87][88][89][90][91][92]. Main clinical features are thin, tightly adherent translucent skin with erosions at flexure sites, prominent vessels, characteristic facial dysmorphism, generalized joint contractures, dysplasia of clavicles, and respiratory insufficiency [87][88][89][90][91][92]. Prenatally, intrauterine growth retardation, fetal hypokinesia, and polyhydramnios can be observed.…”

Section: Congenital Restrictive Dermopathymentioning

confidence: 99%

“…Less frequently, autosomal dominant mutations in the LMNA gene are causative of restrictive dermopathy, leading to a truncated prelamin A protein, which cannot undergo full posttranslational maturation and accumulates inside the nucleus. Mutations in both genes, thereby, induce nuclear structural and functional alterations [87][88][89][90][91][92].…”

Section: Congenital Restrictive Dermopathymentioning

confidence: 99%

The Role of Klotho in Pediatric Premature Aging Diseases

Bittmann

2023

AJBSR

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The protein Klotho was first discovered in Klotho-deficient mice, which developed a syndrome similar to premature aging in humans. Since then, Klotho has been implicated in multiple molecular signalling pathways and diseases. Wnt activity and signalling pathways related to ageing and senescence: progerin, klotho and mTOR. Klotho has three different forms: soluble, membrane bounded and intracellular Klotho. All these three forms have different function. Klotho has been shown to have anti-aging, health span and lifespan extending, cognitive enhancing, anti-oxidative, anti-inflammatory, and anti-tumor properties. Two of three forms of Klotho protein, membrane Klotho and secreted Klotho, exert distinct functions. Membrane Klotho forms a complex with fibroblast growth factor receptors and functions as an obligate co-receptor for FGF23, a bone-derived hormone that induces phosphate excretion into urine. Mice lacking Klotho or FGF23 not only exhibit phosphate retention but also display a premature-aging syndrome, revealing an unexpected link between phosphate metabolism and aging. Secreted Klotho functions as a humoral factor that regulates activity of multiple glycoproteins on the cell surface, including ion channels and growth factor receptors such as insulin/insulin-like growth factor-1 receptors. Potential contribution of these multiple activities of Klotho protein to aging processes is discussed. Klotho levels decrease with age and in many diseases. It has been of great interest to develop a Klotho-boosting or restoring drug, or to supplement endogenous Klotho with exogenous Klotho genetic material or recombinant Klotho protein, and to use Klotho levels in the body as a biomarker for the efficacy of such drugs and for the diagnosis and management of paediatric diseases. First efforts were performed in mice and humans to add orally active and clinically translatable senolytics like Dasatinib or Quercetin to restore Klotho levels. Further research in this interesting field of Klotho interaction in growth and aging in children, especially in paediatric premature aging syndromes, is necessary. This is an overview of the role of Klotho in paediatric premature diseases.do not exhibit all aspects associated with physiological aging. Premature aging signs include, among others, alopecia, hair graying, lipodystrophy, osteoporosis, joint contractures, cataract, hearing loss, atherosclerosis, cardiovascular diseases, diabetes mellitus and malignancies at an early age. In addition to these typical aging phenotypes, progeria patients may also present with growth retardation, developmental delay, and intellectual disability. A more modular view of segmental premature aging syndromes hypothesizes that a cluster of symptoms appearing in several disorders might be due to a common underlying cause-for example, alopecia, osteoporosis, and nail atrophy have been proposed to be related to telomere shortening. Research into premature aging disorders

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Restrictive dermopathy: a rare laminopathy

Thill

Dương

Wehnert

et al. 2008

Arch Gynecol Obstet

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It is important to know about this disease and to distinguish it from others like keratinization malfunctions such as ichtyosis, congenital, developmental and akinesia disturbance, etc., to know the prognosis for the affected newborn and to provide sufficient (genetic) counselling to the families. This disorder is caused by dominant mutations of the LMNA (primary laminopathy) or recessive mutations of the ZMPSTE24 (FACE1) (secondary laminopathy) genes.

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Restriktive Dermopathiey

Cited by 5 publications

References 25 publications

Progeroide Syndrome

Progeroide Syndrome

The Role of Klotho in Pediatric Premature Aging Diseases

Restrictive dermopathy: a rare laminopathy

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