Hunter syndrome: gene deletions and rearrangements

Early disease course is unaltered in mucopolysaccharidosis type IIIA (MPS IIIA) mice lacking α-synuclein.

Neuropathology and applied neurobiology·2019

Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy.

Clinical genetics·2018

Exocytosis is impaired in mucopolysaccharidosis IIIA mouse chromaffin cells.

Neuroscience·2012

Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy.

Journal of inherited metabolic disease·2012

Abnormal gangliosides are localized in lipid rafts in Sanfilippo (MPS3a) mouse brain.

Neurochemical research·2012

Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene.

New Zealand veterinary journal·2012

From Germline Variants to Tumor Outcome: GWAS-Based Functional Genomics Prioritizes Colorectal Cancer Susceptibility Genes and Links SMAD9 to Prognosis.

Human mutation·2026

Mutation-Immune Crosstalk Contextualizes CAF-Associated ARPC1A Programs and Cisplatin Response in Gastric Cancer.

Human mutation·2026

Identification of Novel Pathogenic Variants in Familial Adenomatous Polyposis Through Whole Genome Sequencing.

Human mutation·2026

A Pathogenic ANK1 c.5096G>A Mutation Disrupting the Ankyrin-1/β-Spectrin Interaction in Hereditary Spherocytosis.

Human mutation·2026

A Novel Splice Variant in the COL1A1 Gene Leads to Exon 46 Skipping and Osteogenesis Imperfecta.

Human mutation·2026

Two Unrelated Families With Noncoding Duplications Upstream of MSX2 Refine the Critical Regulatory Region Likely Involved in Cranial Bone Development and a Cleidocranial Dysplasia-Like Phenotype.

Human mutation·2026

CamK-DB: A k-mer MinHash fingerprint database for reference-free genotyping of Camellia accessions.

GigaScience·2026

Study on the role of miR-433-3p in the occurrence and development of endometriosis.

Nucleosides, nucleotides & nucleic acids·2026

Heat-responsive ONSEN long terminal repeats integrate heat shock factor motifs, DNA methylation and natural sequence variation in Arabidopsis.

Biology open·2026

Insights into the recruitment of the H3K4me3 reader Spp1 by the meiotic double-strand break protein Mer2.

Nucleic acids research·2026

Newly synthesized histones: passive or active players in the regulation of epigenetic inheritance?

Nucleic acids research·2026

Epigenetic and Metabolic Regulation of Macrophages during Gout.

Gout, urate, and crystal deposition disease·2026

Related Experiment Videos

Hunter syndrome: gene deletions and rearrangements

Related Concept Videos

Early disease course is unaltered in mucopolysaccharidosis type IIIA (MPS IIIA) mice lacking α-synuclein.

Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy.

Exocytosis is impaired in mucopolysaccharidosis IIIA mouse chromaffin cells.

Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy.

Abnormal gangliosides are localized in lipid rafts in Sanfilippo (MPS3a) mouse brain.

Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene.

From Germline Variants to Tumor Outcome: GWAS-Based Functional Genomics Prioritizes Colorectal Cancer Susceptibility Genes and Links SMAD9 to Prognosis.

Mutation-Immune Crosstalk Contextualizes CAF-Associated ARPC1A Programs and Cisplatin Response in Gastric Cancer.

Identification of Novel Pathogenic Variants in Familial Adenomatous Polyposis Through Whole Genome Sequencing.

A Pathogenic ANK1 c.5096G>A Mutation Disrupting the Ankyrin-1/β-Spectrin Interaction in Hereditary Spherocytosis.

A Novel Splice Variant in the COL1A1 Gene Leads to Exon 46 Skipping and Osteogenesis Imperfecta.

Two Unrelated Families With Noncoding Duplications Upstream of MSX2 Refine the Critical Regulatory Region Likely Involved in Cranial Bone Development and a Cleidocranial Dysplasia-Like Phenotype.

CamK-DB: A k-mer MinHash fingerprint database for reference-free genotyping of Camellia accessions.

Study on the role of miR-433-3p in the occurrence and development of endometriosis.

Heat-responsive ONSEN long terminal repeats integrate heat shock factor motifs, DNA methylation and natural sequence variation in Arabidopsis.

Insights into the recruitment of the H3K4me3 reader Spp1 by the meiotic double-strand break protein Mer2.

Newly synthesized histones: passive or active players in the regulation of epigenetic inheritance?

Epigenetic and Metabolic Regulation of Macrophages during Gout.

Related Experiment Videos

Hunter syndrome: gene deletions and rearrangements

Related Concept Videos

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