DXS997 localized to intron 48 of dystrophin

High intrafamilial variability in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: a case study.

Journal of endocrinological investigation·2011

The glucose-dependent insulinotropic polypeptide receptor is overexpressed amongst GNAS1 mutation-negative somatotropinomas and drives growth hormone (GH)-promoter activity in GH3 cells.

Journal of neuroendocrinology·2011

FOXN1 mutation abrogates prenatal T-cell development in humans.

Journal of medical genetics·2011

Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation.

Neurology·2011

Calmodulin-dependent kinase II mediates vascular smooth muscle cell proliferation and is potentiated by extracellular signal regulated kinase.

Endocrinology·2010

Thymoma-associated immunodeficiency: a syndrome characterized by severe alterations in NK, T and B-cells and progressive increase in naïve CD8+ T Cells.

International journal of immunopathology and pharmacology·2010

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

Prevalence and mechanistic origins of genome-wide ploidy abnormalities in ICSI derived human preimplantation embryos.

Human molecular genetics·2026

Myofibrillar myopathy-associated KY protein promotes muscle fibre size rescue independent of its predicted catalytic triad.

Human molecular genetics·2026

In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3' deletions.

Human molecular genetics·2026

Phylogenetic inconsistency of pairwise SNP clustering for inferring tuberculosis transmission in a high-burden, endemic setting: a case study from Thailand.

mSystems·2026

Protein Language Model Embeddings Recover Evolutionary and Functional Organization Across the Ras Superfamily.

Journal of molecular evolution·2026

Which characters support which clades? Exploring the distribution of phylogenetic signal using mutual information.

Systematic biology·2026

Optimizing predictive performance without sacrificing explainability: Comparing logistic regression and ensemble decision trees for abdominal aortic aneurysm repair outcomes.

JVS-vascular insights·2026

The chromosomal genome sequence of the lesser starlet coral, Siderastrea radians (Pallas, 1766) (Scleractinia: Rhizangiidae) and its associated microbial metagenome sequences.

Wellcome open research·2026

Genomic insights of first varicella zoster clade9 strain: a potential silent surge in Pakistan.

Virus genes·2026

Related Experiment Videos

DXS997 localized to intron 48 of dystrophin

Related Concept Videos

High intrafamilial variability in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: a case study.

The glucose-dependent insulinotropic polypeptide receptor is overexpressed amongst GNAS1 mutation-negative somatotropinomas and drives growth hormone (GH)-promoter activity in GH3 cells.

FOXN1 mutation abrogates prenatal T-cell development in humans.

Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation.

Calmodulin-dependent kinase II mediates vascular smooth muscle cell proliferation and is potentiated by extracellular signal regulated kinase.

Thymoma-associated immunodeficiency: a syndrome characterized by severe alterations in NK, T and B-cells and progressive increase in naïve CD8+ T Cells.

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.

Prevalence and mechanistic origins of genome-wide ploidy abnormalities in ICSI derived human preimplantation embryos.

Myofibrillar myopathy-associated KY protein promotes muscle fibre size rescue independent of its predicted catalytic triad.

In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3' deletions.

Phylogenetic inconsistency of pairwise SNP clustering for inferring tuberculosis transmission in a high-burden, endemic setting: a case study from Thailand.

Protein Language Model Embeddings Recover Evolutionary and Functional Organization Across the Ras Superfamily.

Which characters support which clades? Exploring the distribution of phylogenetic signal using mutual information.

Optimizing predictive performance without sacrificing explainability: Comparing logistic regression and ensemble decision trees for abdominal aortic aneurysm repair outcomes.

The chromosomal genome sequence of the lesser starlet coral, Siderastrea radians (Pallas, 1766) (Scleractinia: Rhizangiidae) and its associated microbial metagenome sequences.

Genomic insights of first varicella zoster clade9 strain: a potential silent surge in Pakistan.

Related Experiment Videos

DXS997 localized to intron 48 of dystrophin

Related Concept Videos

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