Dinucleotide insertion/deletion polymorphism in intron 50 of the COL2A1 gene

Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.

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Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.

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Mutations in FLNB cause boomerang dysplasia.

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Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes.

Clinical genetics·2004

Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis).

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Large-scale mutational analysis uncovers molecular mechanisms governing dual RNA functions in transposons.

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Temporal dynamics of intragenic enhancer RNAs regulate Lin28a expression in response to external stimuli in embryonic stem cells.

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PCNA-RECQL5-RPRD1B recruit repair components to stressed replication forks to promote survival of BRCA1-deficient cancer cells.

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Synergistic interaction between the macrophage polarizing signals IL-4 and IFNγ is controlled by the STAT6/STAT1/IRF1 axis.

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PCRD-seq: proximity crosslinking-induced RNA depletion sequencing for low-input chromatin-associated transcriptome profiling.

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Modeling conformational transitions in DNA, RNA, and protein-nucleic acid complexes.

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Long-read target enrichment sequencing for rAAV integration site analysis in engineered clones with targeted viral insertion.

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Genetic analysis of DDR1 polymorphisms as robust markers for milk yield in Simmental cattle.

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ATXN2 Spectrum Disorders: Genetic Complexity Beyond Dominant Inheritance.

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Genetic and clinical observational evidence for associations between sleep disorders and psychiatric disorders.

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Nature communications·2026

Related Experiment Videos

Dinucleotide insertion/deletion polymorphism in intron 50 of the COL2A1 gene

Related Concept Videos

Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.

Next-generation sequencing for disorders of low and high bone mineral density.

Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.

Mutations in FLNB cause boomerang dysplasia.

Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes.

Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis).

Large-scale mutational analysis uncovers molecular mechanisms governing dual RNA functions in transposons.

Temporal dynamics of intragenic enhancer RNAs regulate Lin28a expression in response to external stimuli in embryonic stem cells.

PCNA-RECQL5-RPRD1B recruit repair components to stressed replication forks to promote survival of BRCA1-deficient cancer cells.

Synergistic interaction between the macrophage polarizing signals IL-4 and IFNγ is controlled by the STAT6/STAT1/IRF1 axis.

PCRD-seq: proximity crosslinking-induced RNA depletion sequencing for low-input chromatin-associated transcriptome profiling.

Modeling conformational transitions in DNA, RNA, and protein-nucleic acid complexes.

Long-read target enrichment sequencing for rAAV integration site analysis in engineered clones with targeted viral insertion.

Genetic analysis of DDR1 polymorphisms as robust markers for milk yield in Simmental cattle.

ATXN2 Spectrum Disorders: Genetic Complexity Beyond Dominant Inheritance.

Causal effect of gastroesophageal reflux disease on cataracts: A mendelian randomization study.

Genetic and clinical observational evidence for associations between sleep disorders and psychiatric disorders.

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Related Experiment Videos

Dinucleotide insertion/deletion polymorphism in intron 50 of the COL2A1 gene

Related Concept Videos

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