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Mutations in the SLC34A2 Gene Are Associated with Pulmonary Alveolar Microlithiasis [PDF]
American Journal of Respiratory and Critical Care Medicine, 2007 Pulmonary alveolar microlithiasis is an autosomal recessive disorder in which microliths are formed in the alveolar space.To identify the responsible gene that causes pulmonary alveolar microlithiasis.By means of a genomewide single-nucleotide polymorphism analysis using DNA from three patients, we have narrowed the region in which the candidate gene ...
Yoshikazu Inoue +31 more
openaire +2 more sources
Tumor Biology, 2016 Even though early detection methods and treatment options are greatly improved, chemoresistance is still a tremendous challenge for breast cancer therapy. Breast cancer stem cells (BCSCs) represent a subpopulation that is central to chemoresistance. We aim to investigate the relationship between SLC34A2 and chemoresistance in BCSCs and identify the ...
Guanqun Ge +9 more
semanticscholar +4 more sources
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Oncogene, 2020
Thyroid cancer is the fastest growing cancer among all solid tumors in recent decades. Papillary thyroid carcinoma (PTC) is the most predominant type of thyroid cancer. Around 30% of PTC patients with distant metastases and local invasion receive poor prognosis.
Jing He +13 more
semanticscholar +3 more sources
Thyroid cancer is the fastest growing cancer among all solid tumors in recent decades. Papillary thyroid carcinoma (PTC) is the most predominant type of thyroid cancer. Around 30% of PTC patients with distant metastases and local invasion receive poor prognosis.
Jing He +13 more
semanticscholar +3 more sources
Journal of Genetics, 2018
Pulmonary alveolar microlithiasis (PAM) is an autosomal recessive disorder with distinctive deposition of calcium phosphate microliths in the lungs. Mutation of the SLC34A2 gene was proved to be responsible for PAM. Here, we report the study of a family affected by PAM in China.
Xin Xin +8 more
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Pulmonary alveolar microlithiasis (PAM) is an autosomal recessive disorder with distinctive deposition of calcium phosphate microliths in the lungs. Mutation of the SLC34A2 gene was proved to be responsible for PAM. Here, we report the study of a family affected by PAM in China.
Xin Xin +8 more
openaire +3 more sources
Stimulation of the intestinal phosphate transporter SLC34A2 by the protein kinase mTOR
Biochemical and Biophysical Research Communications, 2006Adequate phosphate homeostasis is of critical importance for a wide variety of functions including bone mineralization and energy metabolism. Phosphate balance is a function of intestinal absorption and renal elimination, which are both under tight hormonal control.
Florian Lang, Manzar Shojaiefard
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Physiology
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common dystrophy and affects about 1 in 15,000 people globally. In FSHD patients, epigenetic dysregulation leads to aberrant expression of the transcription factor DUX4 in skeletal muscle.
Maria Traficante +5 more
semanticscholar +1 more source
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common dystrophy and affects about 1 in 15,000 people globally. In FSHD patients, epigenetic dysregulation leads to aberrant expression of the transcription factor DUX4 in skeletal muscle.
Maria Traficante +5 more
semanticscholar +1 more source
Cancer Research
SLC34A2 is overexpressed in 61% of ovarian cancer and 18% of uterine cancer tumors. SLC34A2 overexpression is believed to be driven by the aberrant activity of the essential PAX8 transcription factor in these tumors.
Mansi Babbar +24 more
semanticscholar +1 more source
SLC34A2 is overexpressed in 61% of ovarian cancer and 18% of uterine cancer tumors. SLC34A2 overexpression is believed to be driven by the aberrant activity of the essential PAX8 transcription factor in these tumors.
Mansi Babbar +24 more
semanticscholar +1 more source
Báo cáo ca bệnh vi sỏi phế nang có tính chất gia đình liên quan đến đột biến gen SLC34A2
Tap chi nghien cuu y hocVi sỏi phế nang là một bệnh lý hô hấp mạn tính rất hiếm gặp. Bệnh đặc trưng bởi tổn thương lan tỏa, ưu thế ở thùy giữa và dưới 2 phổi do lắng đọng canxi và phosphat trong phế nang.
Nguyễn Thị Phương Thùy +3 more
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[A novel mutation of the SLC34A2 gene in a Chinese pedigree with pulmonary alveolar microlithiasis].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2009To identify the mutation of solute carrier family 34 member 2 (SLC34A2) gene in a Chinese family with pulmonary alveolar microlithiasis (PAM).Genomic DNA was extracted from the family members. DNA sequencing was carried out to confirm the mutation detected by polymerase chain reaction-single strand conformation polymorphisms (PCR-SSCP).
Cheng-ping Hu +3 more
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Pharmacogenetics and Genomics, 2010
We previously found that the lack of nuclear xenobiotic receptor, PXR, decreases femoral bone mineral density (BMD) in Pxr-/- mice. Our present study aims to elucidate the inherited phenotype that correlates with the decreased BMD and to identify the PXR-regulated gene that may link with this phenotype.Pxr+/+ and Pxr-/- mice were used to measure the ...
Nobuhiro Kamiya +3 more
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We previously found that the lack of nuclear xenobiotic receptor, PXR, decreases femoral bone mineral density (BMD) in Pxr-/- mice. Our present study aims to elucidate the inherited phenotype that correlates with the decreased BMD and to identify the PXR-regulated gene that may link with this phenotype.Pxr+/+ and Pxr-/- mice were used to measure the ...
Nobuhiro Kamiya +3 more
openaire +2 more sources