A de novo frame-shift mutation in the tuberin gene

Polyallelic structural variants can provide accurate, highly informative genetic markers focused on diagnosis and therapeutic targets: Accuracy vs. Precision.

Clinical pharmacology and therapeutics·2015

Are APOE ɛ genotype and TOMM40 poly-T repeat length associations with cognitive ageing mediated by brain white matter tract integrity?

Translational psychiatry·2014

Polymorphism in the TOMM40 gene modifies the risk of developing sporadic inclusion body myositis and the age of onset of symptoms.

Neuromuscular disorders : NMD·2013

Inhibition of α-ketoglutarate-and pyruvate dehydrogenase complexes in E. coli by a glutathione S-transferase containing a pathological length poly-Q domain: A possible role of energy deficit in neurological diseases associated with poly-Q expansions?

Age·2013

Using genetics to enable studies on the prevention of Alzheimer's disease.

Clinical pharmacology and therapeutics·2012

A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing.

Molecular psychiatry·2012

A de novo TRPV4 variant c.2479C>G (p.Pro827Ala) in Spondylometaphyseal dysplasia Kozlowski type: identification and functional analysis.

Human molecular genetics·2026

SPEN deficiency contributes to the development of orofacial clefts in humans and mice.

Human molecular genetics·2026

Fetal myogenesis chromatin state and CpG from the open alliance markers and their intersection with adult muscle and gastrointestinal genetics.

Human molecular genetics·2026

The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes.

Human molecular genetics·2026

A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy.

Human molecular genetics·2026

Integrated multi-platform genetic profiling reveals dual molecular pathology in 46, XY disorders of sex development through NR5A1 Haploinsufficiency and maternal chromosome 15 UPD.

Human molecular genetics·2026

F/HN-pseudotyped lentiviral vector efficiently transduces non-human primate airways with no evidence of relevant toxicity.

Molecular therapy. Advances·2026

Synergistic Wnt/BMP Co-activation accelerates osteogenic differentiation of human pluripotent stem cells via paraxial mesoderm induction.

Journal of tissue engineering·2026

Recent Advances in Mechanobiology-Mediated In Situ Tissue Engineering.

International journal of biomaterials·2026

Feasibility of acromial periosteal flap technique for enhanced reconstruction of acromioclavicular joint dislocations: a cadaveric study.

Journal of orthopaedic surgery and research·2026

Trophoblast cells rewire the epigenetic landscape of vascular smooth muscle cells to modulate plasticity: a regulatory axis disrupted in intrauterine growth restriction.

Cell communication and signaling : CCS·2026

Recent Trends in Tissue Engineering Strategies for Uterine Endometrial Regeneration: a Systematic Review.

Reproductive sciences (Thousand Oaks, Calif.)·2026

Related Experiment Videos

A de novo frame-shift mutation in the tuberin gene

Related Concept Videos

Polyallelic structural variants can provide accurate, highly informative genetic markers focused on diagnosis and therapeutic targets: Accuracy vs. Precision.

Are APOE ɛ genotype and TOMM40 poly-T repeat length associations with cognitive ageing mediated by brain white matter tract integrity?

Polymorphism in the TOMM40 gene modifies the risk of developing sporadic inclusion body myositis and the age of onset of symptoms.

Inhibition of α-ketoglutarate-and pyruvate dehydrogenase complexes in E. coli by a glutathione S-transferase containing a pathological length poly-Q domain: A possible role of energy deficit in neurological diseases associated with poly-Q expansions?

Using genetics to enable studies on the prevention of Alzheimer's disease.

A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing.

A de novo TRPV4 variant c.2479C>G (p.Pro827Ala) in Spondylometaphyseal dysplasia Kozlowski type: identification and functional analysis.

SPEN deficiency contributes to the development of orofacial clefts in humans and mice.

Fetal myogenesis chromatin state and CpG from the open alliance markers and their intersection with adult muscle and gastrointestinal genetics.

The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes.

A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy.

Integrated multi-platform genetic profiling reveals dual molecular pathology in 46, XY disorders of sex development through NR5A1 Haploinsufficiency and maternal chromosome 15 UPD.

F/HN-pseudotyped lentiviral vector efficiently transduces non-human primate airways with no evidence of relevant toxicity.

Synergistic Wnt/BMP Co-activation accelerates osteogenic differentiation of human pluripotent stem cells via paraxial mesoderm induction.

Recent Advances in Mechanobiology-Mediated In Situ Tissue Engineering.

Feasibility of acromial periosteal flap technique for enhanced reconstruction of acromioclavicular joint dislocations: a cadaveric study.

Trophoblast cells rewire the epigenetic landscape of vascular smooth muscle cells to modulate plasticity: a regulatory axis disrupted in intrauterine growth restriction.

Recent Trends in Tissue Engineering Strategies for Uterine Endometrial Regeneration: a Systematic Review.

Related Experiment Videos

A de novo frame-shift mutation in the tuberin gene

Related Concept Videos

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