Alexander Paul

OC3.1 - ECE_1630 - Copy number variations define distinct genetic profiles and predict recurrence risk in Cushing's disease

Alexander Paul, Mario Detomas, Sabine Herterich, Silke Appenzeller et autres

Abstract Cushing's disease (CD) is caused by adrenocorticotropic hormone (ACTH)-secreting pituitary tumors. Despite various treatment options, patients still suffer from high recurrence rates, stressing the need to find better prognostic biomarkers and develop improved treatments. First, however, a comprehensive understanding of CD …

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miR-486-5p and miR-144-3p as candidate regulators of cortisol biosynthesis: functional and transcriptomic evidence in adrenocortical cells

Xiaohui Xia, Alexander Paul, Ru Zhang, Max Kurlbaum et autres

BACKGROUND: MicroRNAs (miRNAs) have been identified to regulate gene expression in adrenal disorders. OBJECTIVE: To investigate the effects of specific miRNAs on cortisol biosynthesis. METHODS: Seven candidate miRNAs were transfected as mimics into steroidogenically active adrenocortical cell lines (NCI-H295R, HAC15, and CU-ACC1). …

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Alternative approaches to lead sampling in drinking water: A comparative study of homes with and without lead service lines in two cities

Darren A. Lytle, Megan Urbanic, Alexander Paul, Riley Achtemeier et autres

Ghana, us (code pays fourni par la source)

Multi-omics analysis of USP8 mutated and wild type corticotroph pituitary tumors enhances understanding of tumorigenesis, proliferation, immune response and hormone excess in Cushing's disease

Alexander Paul, Mario Detomas, Roland Coras, Panagiota Arampatzi et autres

Deep Sequencing Reveals Somatic Mosaicism in Genes Relevant to Genetic Errors of Immunity in a Cohort of Patients with Immune Dysregulation

Elizabeth G. Schmitz, Alexander Paul, Rajarshi Ghosh, Nermina Saucier et autres

Somatic mosaicism is an important mechanism of immune dysregulation and explains a growing proportion of the 70% of patients with suspected IEI who lack a molecular diagnosis. Identifying disease-causing somatic mutations is challenging due to the presence of such variants in a …

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Enhancer Hijacking of the IGH Locus as a Novel Genetic Mechanism of an Inborn Error of Immunity Leading to Invasive Streptococcus pneumoniae Infection due to Antibody Deficiency

Joshua W.D. Tobin, Matthew Du, Changxu Fan, Tony Yao et autres

We investigated the genetic cause of disease in five affected individuals from two unrelated families with an autosomal dominant pattern of invasive Streptococcus pneumoniae infection associated with a clinical phenotype of specific antibody deficiency. In Family A, two male siblings presented at …

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BCL-2 and BOK regulate apoptosis by interaction of their C-terminal transmembrane domains

Tobias B. Beigl, Alexander Paul, Thomas Fellmeth, Dang Quan Nguyen et autres

Abstract The Bcl-2 family controls apoptosis by direct interactions of pro- and anti-apoptotic proteins. The principle mechanism is binding of the BH3 domain of pro-apoptotic proteins to the hydrophobic groove of anti-apoptotic siblings, which is therapeutically exploited by approved BH3-mimetic anti-cancer drugs. …

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FGF/FGFR signaling in adrenocortical tumorigenesis: Novel potential therapeutic targets in adrenocortical carcinoma

Lena Kappenstein, Alexander Paul, Barbara Altieri, Iuliu Sbiera et autres

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Deep sequencing refines prior genomic analysis in families with apparent gonadal mosaicism

Halyn Orellana, Jia Yan, Joie Davis, Leila Jamal et autres

Background Gonadal and gonosomal mosaicism describe a phenomenon in which a seemingly healthy individual carries a disease-causing variant in their gonadal tissue or gonadal and somatic tissue, respectively, with risk of transmitting the variant to their offspring. De novo variants play a …

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Abstract 2524: Critical interactions and tumor-specific mutations of Bcl-2 transmembrane domains revealed by a novel split luciferase assay

Tobias B. Beigl, Alexander Paul, Sandra Weller, Benjamin W. Schafer et autres

Abstract In intrinsic apoptosis, the interaction network of the Bcl-2 protein family controls the decision over life and death. Cells are sentenced to death when pro-apoptotic multidomain effector proteins BAX, BAK or BOK oligomerize and form pores in the mitochondrial outer membrane. …

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Alexander Paul

Groucho co-repressor proteins regulate β cell development and proliferation by repressing Foxa1 in the developing mouse pancreas

Alexandra Theis, Ruth A. Singer, Diana C. Garofalo, Alexander Paul et autres

ABSTRACT Groucho-related genes (GRGs) are transcriptional co-repressors that are crucial for many developmental processes. Several essential pancreatic transcription factors are capable of interacting with GRGs; however, the in vivo role of GRG-mediated transcriptional repression in pancreas development is still not well understood. …

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