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1.
Front Cell Dev Biol ; 11: 1120365, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36814601

RESUMO

WNT10B, a member of the WNT family of secreted glycoproteins, activates the WNT/ß-catenin signaling cascade to control proliferation, stemness, pluripotency, and cell fate decisions. WNT10B plays roles in many tissues, including bone, adipocytes, skin, hair, muscle, placenta, and the immune system. Aberrant WNT10B signaling leads to several diseases, such as osteoporosis, obesity, split-hand/foot malformation (SHFM), fibrosis, dental anomalies, and cancer. We reviewed WNT10B a decade ago, and here we provide a comprehensive update to the field. Novel research on WNT10B has expanded to many more tissues and diseases. WNT10B polymorphisms and mutations correlate with many phenotypes, including bone mineral density, obesity, pig litter size, dog elbow dysplasia, and cow body size. In addition, the field has focused on the regulation of WNT10B using upstream mediators, such as microRNAs (miRNAs) and long non-coding RNAs (lncRNAs). We also discussed the therapeutic implications of WNT10B regulation. In summary, research conducted during 2012-2022 revealed several new, diverse functions in the role of WNT10B in physiology and disease.

2.
BMJ Case Rep ; 15(10)2022 Oct 12.
Artigo em Inglês | MEDLINE | ID: mdl-36223973

RESUMO

A woman presented to medical oncology with almost 4 years of untreated, slowly progressing, triple negative metastatic breast cancer to the lung. About 15 years prior, she was diagnosed with invasive ductal carcinoma of the right breast with ipsilateral chest wall recurrence 6 years later. Comprehensive molecular profiling of a metastatic lesion detected a hotspot ETV6-NTRK3 fusion, which was not present on circulating tumour DNA or molecular profile performed 4 years prior. A second look pathological examination demonstrated tumour characteristics consistent with secretory breast carcinoma. Identification of ETV6--NKRT3 fusion allowed for treatment with larotrectinib, a tyrosine kinase inhibitor specifically indicated for secretory breast carcinoma. After 3 months, she experienced a partial response.


Assuntos
Neoplasias da Mama , DNA Tumoral Circulante , Neoplasias de Mama Triplo Negativas , Neoplasias da Mama/genética , Neoplasias da Mama/patologia , Carcinoma , DNA Tumoral Circulante/genética , Feminino , Fusão Gênica , Humanos , Proteínas de Fusão Oncogênica/genética , Inibidores de Proteínas Quinases , Neoplasias de Mama Triplo Negativas/tratamento farmacológico , Neoplasias de Mama Triplo Negativas/genética
3.
Case Rep Pediatr ; 2016: 7873813, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27895953

RESUMO

Rhabdomyolysis can occur because of multiple causes and account for 7% of all cases of acute kidney injury annually in the United States. Identification of specific cause can be difficult in many cases where multiple factors could potentially cause rhabdomyolysis. We present a case of 16-year-old male who had seizures and was given levetiracetam that resulted in rhabdomyolysis. This side effect has been rarely reported previously and like in our case diagnosis may be delayed.

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