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Researcher Leads Large Multicenter Gene Sequencing Study Of Neuroblastoma

An extensive genomic study of the childhood cancer neuroblastoma reinforces the challenges in treating the most aggressive forms of this disease. Contrary to expectations, the scientists found relativ...

Study refocuses on how neuroblastoma tumors evolve in response to medicine and other factors

An extensive genomic study of the childhood cancer neuroblastoma reinforces the challenges in treating the most aggressive forms of this disease. Contrary to expectations, the scientists found relativ...

New gene variants raise risk of neuroblastoma, influence tumor progression

(Children's Hospital of Philadelphia) Researchers have discovered two gene variants that raise the risk of the pediatric cancer neuroblastoma. Using automated technology to perform genome-wide associa...

Tumors evolve rapidly in a childhood cancer, leaving fewer obvious tumor targets

(Children's Hospital of Philadelphia) An extensive genomic study of the childhood cancer neuroblastoma reinforces the challenges in treating the most aggressive forms of this disease. Contrary to expe...

Gene score IDs prognosis in metastatic neuroblastoma

(HealthDay)—For children with metastatic MYCN-nonamplified neuroblastoma (NBL-NA) diagnosed at age 18 months or older, increased expression of tumor-associated inflammatory genes seems to correlate...

Biomarker may identify neuroblastomas with sensitivity to BET bromodomain inhibitors

(American Association for Cancer Research) The MYCN gene is commonly amplified in neuroblastoma and associated with poor prognosis. A BET bromodomain inhibitor downregulated MYCN expression. The drug...

Large multicenter study sequences genes of neuroblastoma

An extensive genomic study of the childhood cancer neuroblastoma reinforces the challenges in treating the most aggressive forms of this disease. Contrary to expectations, the scientists found relativ...

DNA method leads to more effective treatment of neuroblastoma in children

After leukaemia and brain tumours, neuroblastoma is the most common form of cancer to affect children. A thesis from the Sahlgrenska Academy, University of Gothenburg, Sweden, has studied a DNA method...

SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis.

The aim of the study was to analyze frequency of SHOX gene defects and selected dysmorphic signs in patients of both idiopathic short stature (ISS) and Léri-Weill dyschondrosteosis (LWD), all derived...

Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: Implications for disease mechanisms and recurrence risks.

Mutations or deletions in the SHOX gene cause Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD) when present in heterozygous or homozygous form, respectively. A new class of enha...

Functional Redundancy between Human SHOX and Mouse Shox2 Genes in the Regulation of Sinoatrial Node Formation and Pacemaking Function.

The homeodomain transcription factor Shox2 plays a crucial regulatory role in the development of sinoatrial node (SAN) by repressing the expression of Nkx2.5, as demonstrated by failed differentiation...

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

We report the clinical and molecular characteristics of 12 Spanish families with multiple members affected with Léri-Weill dyschondrosteosis (LWD) or Langer mesomelic dysplasia (LMD), who present the...

Trisomy of the Short Stature Homeobox-Containing Gene (SHOX) due to Duplication/Deletion of the X Chomosome: Clinical Implications on the Stature.

Background: The karyotypes of 2 patients with abnormal stature and different phenotypes revealed one similar structural abnormality in the X chromosome by conventional cytogenetic studies and fluoresc...