LBR

Last update 08 May 2025

Basic Info

Synonyms

3-beta-hydroxysterol Delta (14)-reductase, C-14 sterol reductase, C14SR

+ [10]

Introduction

Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis (PubMed:12618959, PubMed:16784888, PubMed:21327084, PubMed:27336722, PubMed:9630650). Plays a critical role in myeloid cell cholesterol biosynthesis which is essential to both myeloid cell growth and functional maturation (By similarity). Mediates the activation of NADPH oxidases, perhaps by maintaining critical levels of cholesterol required for membrane lipid raft formation during neutrophil differentiation (By similarity). Anchors the lamina and the heterochromatin to the inner nuclear membrane (PubMed:10828963).

100 Clinical Results associated with LBR

100 Translational Medicine associated with LBR

0 Patents (Medical) associated with LBR

341

Literatures (Medical) associated with LBR

31 Dec 2025·Gynecological Endocrinology

The influence of male smoking on success rates after IVF/ICSI

Article

Author: Tournaye, H. ; Mackens, S. ; Uvin, V. ; Vloeberghs, V. ; De Vos, M. ; De Brucker, M. ; Drakopoulos, P. ; De Brucker, S. ; Boudry, L. ; Dhooge, E.

OBJECTIVEIt has been established that male cigarette smoking has a negative effect on the semen quality and that it can induce DNA damage leading to worsening of reproductive outcomes. The aim of our large retrospective study is to determine the influence of male cigarette smoking on assisted reproduction, more specifically in IVF and ICSI outcomes.MATERIALS AND METHODSOur study included all consecutive infertile couples (with a nonsmoking female partner) having their first IVF/ICSI cycle. All patients had smoking assessment. Smokers were further classified into mild (1-10 cigarettes/day), moderate (11-20 cigarettes/day) or heavy smokers (>20 cigarettes/day). The primary outcome was live birth rates (LBR).RESULTSThe overall number of patients analyzed was 4004 and among them 433 (10.8%) were smokers. Baseline characteristics, such as female age and BMI differed significantly between nonsmokers and smokers. The crude analysis showed higher positive hCG and LBR in smokers (positive hCG 28.34% in nonsmokers vs 33.95% in smokers, p = 0.015; LBR 23.55% in nonsmokers vs 28.64% in smokers, p = 0.019) However after adjustment for relevant confounders (female age, BMI, cause of infertility, number of oocytes retrieved, insemination procedure, number of embryos transferred and day of embryo transfer) the smoking status was not significantly associated with fresh LBR (OR = 1.16, CI = 0.92-1.48; p = 0.2). The results were replicated after classification of smoking into mild/moderate/heavy [OR for nonsmokers (reference category) vs. mild vs. moderate vs. heavy= 1, 1.17, 1, 2.99; p = 0.18)].CONCLUSIONMale smoking does not seem to impair live birth rates in patients undergoing IVF/ICSI treatment.

04 Mar 2025·Ophthalmic Genetics

Whole genome sequencing of 10 families with optic disc drusen

Article

Author: Fraser, Clare L. ; Malmqvist, Lasse ; Grønskov, Karen ; Ovens, Chris ; Hamann, Steffen ; Bertelsen, Mette ; Steensberg, Alvilda H.

INTRODUCTIONOptic disc drusen (ODD) are believed to have a genetic predisposition, with autosomal dominant inheritance pattern with incomplete penetrance suggested through family pedigree analysis. ODD prevalence is higher in certain genetic disorders, such as pseudoxanthoma elasticum and retinitis pigmentosa. This study aimed to identify candidate genes potentially involved in the development of ODD.METHODSFamily members aged 18 years or older from families with ODD were included. Participants underwent optical coherence tomography of the optic nerve head, and blood samples were collected for whole-genome sequencing using the Illumina NovaSeq 6000 platform. Single nucleotide variants were identified with the Genome Analysis Toolkit (GATK) and filtered in VarSeq using a population frequency threshold of 1%. Selected genes were classified according to ACMG guidelines.RESULTSA total of 10 families were included, three of which had more than two affected members. Thirty-three variants were identified, with the following genes selected for description: ABCC6, DDX50, TREX1, PLCB4, PTPRQ, LBR, RP1L1, and KRT3. The identified candidate genes showed a wide range of functions and are associated with different disorders. Of particular interest is ABCC6, which normally inhibits ectopic calcification.CONCLUSIONWe identified a list of candidate genes. Studies including larger ODD families are necessary to identify robust candidate genes.

01 Feb 2025·Translational Cancer Research

The causal effects of 2,821 protein level ratios on non-small cell lung cancer: a two-sample Mendelian randomization study

Article

Author: Zou, Xinyun ; Shen, Jinlan ; Li, Xiaokai ; Zhang, Ling ; Diao, Yong

BackgroundNon-small cell lung cancer (NSCLC) has a complex etiology, making early diagnosis difficult and leading to high mortality rates, thus necessitating personalized treatment strategies. While protein level ratios have shown potential as biomarkers or therapeutic targets, their causal relationship with NSCLC remains unclear. This study aimed to investigate these causal links using Mendelian randomization (MR), providing insights into potential biomarkers and therapeutic avenues.MethodsWe executed an intricate two-sample MR study to explore the stochastic causal links between 2,821 protein level ratios and NSCLC. The genome-wide association study (GWAS) statistics for NSCLC and protein level ratios were sourced from the Finnish Database (version 10) and the UK Biobank, respectively. For the instrumental variables (IVs) related to protein level ratios, we selected IVs with a P value <1.0×10^-5. Throughout this analysis, we applied five established MR techniques.ResultsOur study identified causal relationships between 142 protein level ratios and NSCLC. Notably, the AKR1B1/SUGT1 protein level ratio and the PLPBP/STIP1 protein level ratio demonstrated the most significant negative correlations with NSCLC risk. On the other hand, the ARHGEF12/IRAK4 protein level ratio and the BANK1/LBR protein level ratio exhibited the most significant positive correlations. Furthermore, sensitivity analyses did not reveal any significant heterogeneity or horizontal pleiotropy.ConclusionsStudying specific protein level ratios in patients can reveal the molecular mechanisms and pathological processes of NSCLC, which has certain clinical significance for early diagnosis of NSCLC, understanding drug resistance mechanisms and developing personalized treatment strategies. However, these findings necessitate further validation through extensive clinical research.

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