R. Petersen

CRISPR/CAS9 EDITING OF KLKB1 IN HEREDITARY ANGIOEDEMA PATIENTS: UPDATED Results: FROM A PHASE 1 STUDY

Danny M. Cohn, K. Lindsay, Padmalal Gurugama, L. Fijen et autres

us (code pays fourni par la source)

OC 09.4 C1-Inhibitor Levels and Venous Thromboembolism: Results from a Mendelian Randomization Study

R. Petersen, Alexander Cupido, Amand F. Schmidt, Marcel Levi et autres

95% CI: -8.61, -2.26).Among the 14 genetic variants associated with increased coagulation, ST3GAL4 rs35257264 was the most strongly associated with each thrombin generation parameter as well as FVIII levels (8.30% per allele, 95% CI: 2.29, 14.31). Conclusion(s):These results suggest that the genetic …

fr (code pays fourni par la source)

GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

Peter Dixon, Adam P. Levine, Inês Cebola, Melanie Chan et autres

Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disorder affecting 0.5-2% of pregnancies. The majority of cases present in the third trimester with pruritus, elevated serum bile acids and abnormal serum liver tests. ICP is associated with an increased risk of …

gb, cn, Soudan du Sud, nl, sg, it, au, ar, fr, be (code pays fourni par la source)

Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension

Daniel Greene, Na Zhu, Karyn Mégy, Marcella Cogliano et autres

Background: Approximately 25% of patients with pulmonary arterial hypertension (PAH) have been found to harbor rare mutations in disease-causing genes. To identify missing heritability in PAH, we integrated deep phenotyping with whole-genome sequencing data using Bayesian statistics. Methods: We analyzed 13 037 …

us, gb, ca, nl, at, de, pl, fr, it, Maroc (code pays fourni par la source)

Cell type-specific novel long non-coding RNA and circular RNA in the BLUEPRINT hematopoietic transcriptomes atlas

Luigi Grassi, Osagie Izuogu, Natasha Andressa Nogueira Jorge, Denis Seyres et autres

Transcriptional profiling of hematopoietic cell subpopulations has helped to characterize the developmental stages of the hematopoietic system and the molecular bases of malignant and non-malignant blood diseases. Previously, only the genes targeted by expression microarrays could be profiled genome-wide. High-throughput RNA sequencing, …

gb, br, pt, it, de, nl (code pays fourni par la source)

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James Thaventhiran, Hana Lango Allen, Oliver S. Burren, William Rae et autres

pt, gb, us, nl, no, de, ie, tr, au (code pays fourni par la source)

Whole-genome sequencing of patients with rare diseases in a national health system

Ernest Turro, Karyn Mégy, Olga Shamardina, Hana Lango Allen et autres

gb, be, nl, sg (code pays fourni par la source)

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James Thaventhiran, Hana Lango Allen, Oliver S. Burren, William Rae et autres

Primary immunodeficiency (PID) is characterized by recurrent and often life-threatening infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic challenges. Although the most severe forms of PID are identified in early childhood, most patients present in adulthood, typically with no …

pt, gb, us, nl, no, de, ie, tr, au (code pays fourni par la source)

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Manfred Fliegauf, Nils Klammer, Natalie Frede, Michele Proietti et autres

BACKGROUND: An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes. OBJECTIVE: To characterize the clinical and cellular phenotype as well as the management of patients with heterozygous NFKB1 mutations. METHODS: In a worldwide collaborative effort, we …

de, it, fi, nl, nz, ca, il, au, ec, es, ru, pt, sk, gb, tr, us, at, br, ir, se, dk (code pays fourni par la source)

Cell type specific novel lincRNAs and circRNAs in the BLUEPRINT haematopoietic transcriptomes atlas

Luigi Grassi, Osagie Izuogu, Natasha Andressa Nogueira Jorge, Denis Seyres et autres

Abstract Transcriptional profiling of hematopoietic cell subpopulations has helped characterize the developmental stages of the hematopoietic system and the molecular basis of malignant and non-malignant blood diseases for the past three decades. The introduction of high-throughput RNA sequencing has increased knowledge of …

gb, br, es, nl, de (code pays fourni par la source)

Author Correction: Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS

Erdogan Taskesen, Aniket Mishra, Sophie van der Sluis, Roberto Ferrari et autres

A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper.

nl, gb, us, au, es, it, se, ca, de, be, fr, dk (code pays fourni par la source)

Nbeal2 interacts with Dock7, Sec16a, and Vac14

Louisa Mayer, Maria Jasztal, Mercedes Pardo, Salvadora Aguera de Haro et autres

Key Points Nbeal2 interacts with Dock7, Sec16a, and Vac14; and missense variants that cause GPS disrupt the binding of Dock7 and Vac14. The level of the α-granule protein Dock7 in platelets from Nbeal2−/− mice and GPS cases is reduced and its signaling …

gb, fr (code pays fourni par la source)