Publications by authors named "Redler S"

P4-ATPases comprise a family of lipid flippases that translocate lipids from the exoplasmic (or luminal) to the cytoplasmic leaflet of biological membranes. Of the 14 known human P4-ATPases, ATP8B2 is a phosphatidylcholine flippase at the plasma membrane, but its physiological function is not well understood. Although ATP8B2 could interact with both CDC50A and CDC50B, it required only the CDC50A interaction for its exit from the endoplasmic reticulum and subsequent transport to the plasma membrane.

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  • Malignant sweat gland tumors, particularly eccrine porocarcinoma (EP), are rare, with about 18% of benign eccrine poroma (EPO) cases progressing to EP, highlighting a need for more understanding of EP biology and mutations involved in this transformation.
  • Transcriptome profiling of 23 EP and normal skin samples showed significant gene expression diversity and downregulation in EP, including specific genes that indicated a stepwise transition from normal skin to EPO to EP.
  • The study suggests that EP has a complex molecular nature linked to tumor development, with potential involvement of the p53 and EGFR pathways, and calls for further research with larger sample sizes to validate these findings.
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The aim was to develop evidence-based recommendations where possible. The guideline presents the medical principles and scientific evidence for indications, the counselling of affected women, performing terminations, the choice of method, and the care and monitoring of a terminated pregnancy up until week 12 + 0 of gestation p. c.

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The aim was to develop evidence-based recommendations where possible. The guideline presents the medical principles and scientific evidence for indications, counselling of affected persons, performing terminations, the choice of method, and the care and monitoring of a terminated pregnancy up until week 12 + 0 of gestation p. c.

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  • The Prospective Lynch Syndrome Database (PLSD) gathers data on individuals with MMR variants to study cancer diagnosis and treatment outcomes, focusing on a newly expanded cohort.
  • The study includes over 8,500 patients from 25 countries, analyzing cancer incidence, mortality rates up to age 75, and survival rates after diagnosis.
  • Findings reveal that while gynecological cancers have high incidence rates among carriers, non-colorectal cancers lead to more deaths, highlighting the need for improved care for these patients.
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Background: Research suggests that Alopecia areata (AA) and Major Depressive Disorder (MDD) show substantial comorbidity. To date, no study has investigated the hypothesis that this is attributable to shared genetic aetiology.

Objectives: To investigate AA-MDD comorbidity on the epidemiological and molecular genetic levels.

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  • - The study aims to compare colorectal cancer (CRC) incidences between two groups: one group receiving mandatory colonoscopy surveillance (PLSD) and another group with retrospective data (IMRC) that did not have the same follow-up.
  • - Results from the PLSD showed higher CRC rates in carriers of MMR gene variants, particularly for path_MLH1 and path_MSH2, compared to the IMRC cohort, challenging previous expectations about cancer rates in these groups.
  • - The study concludes that while colonoscopy did reduce CRC incidences in paths_MPS2 carriers prior to age 50, it did not have the same effect for path_MLH1 and path_MSH2, suggesting the need for reevaluation of
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  • Lynch syndrome (LS), Lynch-like syndrome (LLS), and familial colorectal cancer type X (FCCX) are types of conditions that increase the chance of getting colorectal cancer (CRC).
  • Researchers wanted to compare how likely people in each group are to develop adenomas (pre-cancerous growths) and CRC by studying data from a cancer registry.
  • They found that while adenoma risks were similar across the groups, LS had the highest CRC risk, followed by LLS and FCCX, and that males and people with a history of adenomas had a greater risk overall.
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Background: Eccrine porocarcinoma (EPC) is a rare skin cancer arising from the eccrine sweat glands. Due to the lack of effective therapies, metastasis is associated with a high mortality rate.

Objectives: To investigate the drivers of EPC progression.

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Malignant sweat gland tumours are rare, with the most common form being Eccrine porocarcinoma (EP). To investigate the mutational landscape of EP, we performed whole-exome sequencing (WES) on 14 formalin-fixed paraffin-embedded samples of matched primary EP and healthy surrounding tissue. Mutational profiling revealed a high overall median mutation rate.

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Purpose: This study aimed to report the uptake of hysterectomy and/or bilateral salpingo-oophorectomy (BSO) to prevent gynaecological cancers (risk-reducing surgery [RRS]) in carriers of pathogenic MMR (path_MMR) variants.

Methods: The Prospective Lynch Syndrome Database (PLSD) was used to investigate RRS by a cross-sectional study in 2292 female path_MMR carriers aged 30-69 years.

Results: Overall, 144, 79, and 517 carriers underwent risk-reducing hysterectomy, BSO, or both combined, respectively.

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Ververi-Brady syndrome (VBS, # 617982) is a rare developmental disorder, and loss-of-function variants in QRICH1 were implicated in its etiology. Furthermore, a recognizable phenotype was proposed comprising delayed speech, learning difficulties and dysmorphic signs. Here, we present four unrelated individuals with one known nonsense variant (c.

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Introduction:  Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome and accounts for ~3 % of all CRCs. This autosomal dominant disorder is caused by germline mutations in DNA mismatch repair genes (, and ). One in 300 individuals of the general population are considered to be mutation carriers (300 000 individuals/Germany).

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EXOSC3-related autosomal recessive neurodevelopmental disorders are rare entities with variable clinical course and prognosis. They are characterized by hypoplasia of cerebellar structures and pons, degeneration of the anterior horn cells and motor as well as neurocognitive impairment. Phenotypic expression is variable with an overall poor outcome.

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Background: Sweat gland carcinomas are rare cutaneous adnexal malignancies. Aggressive digital papillary adenocarcinoma (ADPA) represents a very rare subentity, thought to arise almost exclusively from the sweat glands of the fingers and toes. The aetiology of sweat gland carcinomas and ADPA is largely unknown.

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Alopecia areata (AA) is one of the most common forms of human hair loss. Although genetic studies have implicated autoimmune processes in AA etiology, understanding of the etiopathogenesis is incomplete. Recent research has implicated microRNAs, a class of small noncoding RNAs, in diverse autoimmune diseases.

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Pattern hair loss is the most common form of hair loss in both women and men. Male pattern hair loss, also termed male androgenetic alopecia (M-AGA), is an androgen-dependent trait that is predominantly genetically determined. Androgen-mediated mechanisms are probably involved in female pattern hair loss (FPHL) in some women but the evidence is less strong than in M-AGA; other non-androgenic pathways, including environmental influences, may contribute to the aetiology.

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For a large number of individuals with intellectual disability (ID), the molecular basis of the disorder is still unknown. However, whole-exome sequencing (WES) is providing more and more insights into the genetic landscape of ID. In the present study, we performed trio-based WES in 311 patients with unsolved ID and additional clinical features, and identified homozygous CPLX1 variants in three patients with ID from two unrelated families.

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Alopecia areata (AA) is a common hair loss disorder of autoimmune aetiology, which often results in pronounced psychological distress. Understanding of the pathophysiology of AA is increasing, due in part to recent genetic findings implicating common variants at several genetic loci. To date, no study has investigated the contribution of copy number variants (CNVs) to AA, a prominent class of genomic variants involved in other autoimmune disorders.

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