A novel donor splice site mutation associated with two mRNAs in von Hippel-Lindau disease

The Drosophila homolog of the human tumor suppressor gene BHD interacts with the JAK-STAT and Dpp signaling pathways in regulating male germline stem cell maintenance.

Oncogene·2006

Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer.

Journal of medical genetics·2006

Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.

Journal of medical genetics·2005

Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2.

American journal of human genetics·2001

Oncogenic mutants of RON and MET receptor tyrosine kinases cause activation of the beta-catenin pathway.

Molecular and cellular biology·2001

The candidate tumor suppressor gene, RASSF1A, from human chromosome 3p21.3 is involved in kidney tumorigenesis.

Proceedings of the National Academy of Sciences of the United States of America·2001

Optical genome mapping identifies cryptic balanced chromosomal rearrangements in karyotypically normal couples with recurrent pregnancy loss or adverse pregnancy history.

Human molecular genetics·2026

Cell-type-specific dysregulated gene expression in the frontal cortex of an Angelman syndrome pig model.

Human molecular genetics·2026

Coding, modifier, and regulatory effects shape circulating APOL1 levels.

Human molecular genetics·2026

CaMKIIβ Signaling drives expression of metabolic and stress response genes in skeletal muscle, and its loss contributes to the LGMDR1 phenotype.

Human molecular genetics·2026

Genetic and epigenetic contributors to cleft laterality: evidence from monozygotic mirror twins and replication cohorts.

Human molecular genetics·2026

Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population.

Human molecular genetics·2026

Development and validation of a higher-throughput, automated FAMA assay for varicella-zoster virus antibody detection, offering a scalable alternative to the classic 12-well slide method.

Microbiology spectrum·2026

Prospective reflectance confocal microscopy monitoring in dupilumab-treated atopic dermatitis.

Journal of the European Academy of Dermatology and Venereology : JEADV·2026

'I'm a figment of your imagination': epistemic injustice as generative of microinvalidations, microinsults and microassaults directed at bisexual men.

Culture, health & sexuality·2026

Development and clinical validation of a colorimetric isothermal assay for rapid detection of monkeypox virus.

New microbes and new infections·2026

Activatable 19F NMR probes from drug scaffolds for assessing myeloperoxidase-associated inflammation.

Chemical science·2026

Update and optimization of a multiplex RT-qPCR assay to overcome diagnostic failure in emerging influenza A(H3N2) subclades J.2 and K (Peru, 2024-2026).

IJID regions·2026

Related Experiment Videos

A novel donor splice site mutation associated with two mRNAs in von Hippel-Lindau disease

Related Concept Videos

The Drosophila homolog of the human tumor suppressor gene BHD interacts with the JAK-STAT and Dpp signaling pathways in regulating male germline stem cell maintenance.

Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer.

Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.

Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2.

Oncogenic mutants of RON and MET receptor tyrosine kinases cause activation of the beta-catenin pathway.

The candidate tumor suppressor gene, RASSF1A, from human chromosome 3p21.3 is involved in kidney tumorigenesis.

Optical genome mapping identifies cryptic balanced chromosomal rearrangements in karyotypically normal couples with recurrent pregnancy loss or adverse pregnancy history.

Cell-type-specific dysregulated gene expression in the frontal cortex of an Angelman syndrome pig model.

Coding, modifier, and regulatory effects shape circulating APOL1 levels.

CaMKIIβ Signaling drives expression of metabolic and stress response genes in skeletal muscle, and its loss contributes to the LGMDR1 phenotype.

Genetic and epigenetic contributors to cleft laterality: evidence from monozygotic mirror twins and replication cohorts.

Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population.

Development and validation of a higher-throughput, automated FAMA assay for varicella-zoster virus antibody detection, offering a scalable alternative to the classic 12-well slide method.

Prospective reflectance confocal microscopy monitoring in dupilumab-treated atopic dermatitis.

'I'm a figment of your imagination': epistemic injustice as generative of microinvalidations, microinsults and microassaults directed at bisexual men.

Development and clinical validation of a colorimetric isothermal assay for rapid detection of monkeypox virus.

Activatable 19F NMR probes from drug scaffolds for assessing myeloperoxidase-associated inflammation.

Update and optimization of a multiplex RT-qPCR assay to overcome diagnostic failure in emerging influenza A(H3N2) subclades J.2 and K (Peru, 2024-2026).

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A novel donor splice site mutation associated with two mRNAs in von Hippel-Lindau disease

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