Varaico: Literature-Extracted Genetic Variants

Gene:NLRP1
Variant:p.L155H
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NLRP1

NM_033004.4:p.L155H

Associated Papers

Impact of NLRP1 Met1154Val and IL1B variants on gestational malaria: an unexplored role of NLRP1 in inflammasome activation by Plasmodium spp.

Leal VN et al.

The Journal of Pathology, 2025

The role of inflammatory gene polymorphisms in severe COVID-19: a review.

Yip JQ et al.

Virology Journal, 2024

NLRP inflammasomes in health and disease.

Xu Z et al.

Molecular Biomedicine, 2024

Role of the NLRP1 inflammasome in skin cancer and inflammatory skin diseases.

Calabrese L et al.

The British Journal of Dermatology, 2024

The effects of NLRP3 rs10754558 and rs4612666 polymorphisms on preeclampsia susceptibility, onset, and severity: a case-control study and in silico analysis.

Rezaei M et al.

Molecular Biology Research Communications, 2024

Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.

Buianova A et al.

Plos One, 2024

39423205 (PubMed )
Supplement: pone.0312335.s007.xlsx › Family_A

Genetic variant in the AGT gene (rs699-GG) is associated with severe COVID-19 in Brazilian patients.

Farias PCS et al.

Anais Da Academia Brasileira De Ciencias, 2024

NLRP1- A CINDERELLA STORY: a perspective of recent advances in NLRP1 and the questions they raise.

Barry K et al.

Communications Biology, 2023

38104185 (PubMed )
Supplement: 42003_2023_5684_MOESM1_ESM.pdf

A common variant close to the "tripwire" linker region of NLRP1 contributes to severe COVID-19.

Leal VNC et al.

Inflammation Research : Official Journal of the European Histamine Research Society ... [et Al.], 2023

Current understanding of the phenotypic spectrum of patients with NLRP1 variants.

Takeichi T et al.

The British Journal of Dermatology, 2023

A homozygous p.Leu813Pro gain-of-function NLRP1 variant causes phenotypes of different severity in two siblings.

Li M et al.

The British Journal of Dermatology, 2023

Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity.

Castano-Jaramillo LM et al.

Journal of Genetics, 2023

Are genetic variations in IL-1β and IL-6 cytokines associated with the risk of pre-eclampsia? Evidence from a systematic review and meta-analysis.

Nasri F et al.

The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2022

NLRP1 Inflammasome Activation in Keratinocytes: Increasing Evidence of Important Roles in Inflammatory Skin Diseases and Immunity.

Fenini G et al.

The Journal of Investigative Dermatology, 2022

Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families.

Azzarà A et al.

Plos One, 2022

Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.

Brancaccio M et al.

Diagnostics (basel, Switzerland), 2021

34829491 (PubMed )
Supplement: diagnostics-11-02144-s001.zip › diagnostics-1421633-supplementary.xlsx › Supplementary_Table_S3

NLRP1 variant M1184V decreases inflammasome activation in the context of DPP9 inhibition and asthma severity.

Moecking J et al.

The Journal of Allergy and Clinical Immunology, 2021

Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses.

van Deuren RC et al.

Genome Medicine, 2021

34034819 (PubMed )
Supplement: 13073_2021_907_MOESM1_ESM.xlsx › Table_S3

NGS study of glucocorticoid response genes in inflammatory bowel disease patients.

Skrzypczak-Zielinska M et al.

Archives of Medical Science : Ams, 2021

Hereditary Hearing Impairment with Cutaneous Abnormalities.

Lee TL et al.

Genes, 2020

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s008.xlsx › Sheet1

Inflammasome genetics and complex diseases: a comprehensive review.

Fernandes FP et al.

European Journal of Human Genetics : Ejhg, 2020

Autoinflammatory disease with corneal and mucosal dyskeratosis caused by a novel NLRP1 variant.

Herlin T et al.

Rheumatology (oxford, England), 2020

The NLRP1 Inflammasome in Human Skin and Beyond.

Fenini G et al.

International Journal of Molecular Sciences, 2020

Double-edged sword of inflammasome genetics in colorectal cancer prognosis.

Cambui RAG et al.

Clinical Immunology (orlando, Fla.), 2020

Introducing the first whole genomes of nationals from the United Arab Emirates.

AlSafar HS et al.

Scientific Reports, 2019

31604968 (PubMed )
Supplement: 41598_2019_50876_MOESM1_ESM.xlsx › UAE_S002

Association of NLRP1 Coding Polymorphism with Lung Function and Serum IL-1β Concentration in Patients Diagnosed with Chronic Obstructive Pulmonary Disease (COPD).

Ozretić P et al.

Genes, 2019

Variants in NLRP3 and NLRC4 inflammasome associate with susceptibility and severity of multiple sclerosis.

Soares JL et al.

Multiple Sclerosis and Related Disorders, 2019

Population genetic evidence for positive and purifying selection acting at the human IFN-γ locus in Africa.

Campbell MC et al.

Genes and Immunity, 2019

Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

John SE et al.

Scientific Reports, 2018

Candidate Gene, Genome-Wide Association and Bioinformatic Studies in Pre-eclampsia: a Review.

Thakoordeen S et al.

Current Hypertension Reports, 2018

Gain-of-function SNPs in NLRP3 and IL1B genes confer protection against obesity and T2D: undiscovered role of inflammasome genetics in metabolic homeostasis?

de Moraes Rodrigues J et al.

Endocrine, 2018

Genotyping and differential expression analysis of inflammasome genes in sporadic malignant melanoma reveal novel contribution of CARD8, IL1B and IL18 in melanoma susceptibility and progression.

da Silva WC et al.

Cancer Genetics, 2016

Contribution of inflammasome genetics in Plasmodium vivax malaria.

Santos MLS et al.

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2016

Investigations into the association between polymorphisms in the interleukin-10 gene and risk of early-onset preeclampsia.

Liu QY et al.

Genetics and Molecular Research : Gmr, 2015

NLRP1 L155H Polymorphism is a Risk Factor for Preeclampsia Development.

Pontillo A et al.

American Journal of Reproductive Immunology (new York, N.y. : 1989), 2015

Association between Interleukin-10 gene polymorphisms and risk of early-onset preeclampsia.

Song L et al.

International Journal of Clinical and Experimental Pathology, 2015

Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease.

Parcerisas A et al.

Journal of Alzheimer's Disease : Jad, 2014

25024348 (PubMed )
Supplement: sj-xls-6-alz-10.3233_jad-140891.xls › P3H

Association of NLRP1 genetic variants and mRNA overexpression with generalized vitiligo and disease activity in a Gujarat population.

Dwivedi M et al.

The British Journal of Dermatology, 2013

Functions of NOD-Like Receptors in Human Diseases.

Zhong Y et al.

Frontiers in Immunology, 2013

Genetic variation in the inflammasome and atopic dermatitis susceptibility.

Bivik C et al.

The Journal of Investigative Dermatology, 2013

Polymorphisms in NLRP1 gene and susceptibility to autoimmune thyroid disease.

Alkhateeb A et al.

Autoimmunity, 2013

NLRP1 haplotypes associated with vitiligo and autoimmunity increase interleukin-1β processing via the NLRP1 inflammasome.

Levandowski CB et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

O'Rawe JA et al.

Peerj, 2013

24109560 (PubMed )
Supplement: peerj-01-177-s010.xlsx › all_omim_evidence.csv

Inflammasome polymorphisms confer susceptibility to sporadic malignant melanoma.

Verma D et al.

Pigment Cell & Melanoma Research, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."