Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease

Studies on patients establish Crohn's disease as a manifestation of impaired innate immunity.

Journal of internal medicine·2019

Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease.

Human genetics·2018

Molecular basis of hereditary C1q deficiency--revisited: identification of several novel disease-causing mutations.

Genes and immunity·2011

Activation of non-neuronal cells in the rat sciatic nerve in response to inflammation caused by implanted silicone tubes.

Restorative neurology and neuroscience·2011

Nurses--psychiatrists' main collaborators when treating women with postpartum psychosis.

Journal of psychiatric and mental health nursing·2010

Innate immunity in inflammatory bowel disease: a disease hypothesis.

The Journal of pathology·2007

Soluble BCMA Defines Spatial Phenotypes and Prognosis in Newly Diagnosed Multiple Myeloma.

Blood·2026

How I Treat: MRD testing to personalize allogeneic HCT for adults with AML.

Blood·2026

Mutant ASXL1 Cooperates with MECOM and BRD4 to Drive Transcriptional Dysregulation in Human Hematopoiesis.

Blood·2026

BNP Promotes Platelet Activation and Thrombosis via its Receptor NPRA: A Paradigm Shift from Biomarker to Effector.

Blood·2026

Melatonin, circadian metabolism, mitochondrial remodeling, and cell size dynamics in primitive hematopoietic stem cells.

Blood·2026

JAK3 regulates PIP5K expression, promotes PIP2 generation and Ca2+ driven platelet activation in arterial thrombosis.

Blood·2026

Genetic covariance between plant biparental populations: concept and estimation.

Heredity·2026

T2T-CHM13 reference genome reduces mapping bias and enhances alignment accuracy at disease-associated variants.

iScience·2026

Genome-wide exploration of coat color-associated loci in Hokkaido Native Horses, with a novel locus implicated in the roan phenotype.

Journal of equine science·2026

Diagnostic limitations of routine low-coverage CNV-seq in detecting mosaic paternal uniparental disomy in Beckwith-Wiedemann syndrome: a case report.

Frontiers in medicine·2026

Cataract GWAS meta-analysis and multi-omics Mendelian randomisation inform disease mechanisms and candidate target prioritisation.

EBioMedicine·2026

Cross-Ethnic Replication of Intersectin-1 as a Parkinson's Disease Susceptibility Gene in a Large Chinese Cohort.

Movement disorders : official journal of the Movement Disorder Society·2026

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Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease

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Studies on patients establish Crohn's disease as a manifestation of impaired innate immunity.

Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease.

Molecular basis of hereditary C1q deficiency--revisited: identification of several novel disease-causing mutations.

Activation of non-neuronal cells in the rat sciatic nerve in response to inflammation caused by implanted silicone tubes.

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Innate immunity in inflammatory bowel disease: a disease hypothesis.

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How I Treat: MRD testing to personalize allogeneic HCT for adults with AML.

Mutant ASXL1 Cooperates with MECOM and BRD4 to Drive Transcriptional Dysregulation in Human Hematopoiesis.

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Genome-wide exploration of coat color-associated loci in Hokkaido Native Horses, with a novel locus implicated in the roan phenotype.

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