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Cameron C Wick, Sharon J Lin, Heping Yu, Cliff A Megerian, Qing Yin Zheng
HYPOTHESIS: Phosphorus and vitamin D (calcitriol) supplementation in the Phex mouse, a murine model for endolymphatic hydrops (ELH), will improve otic capsule mineralization and secondarily ameliorate the postnatal development of ELH and sensorineural hearing loss (SNHL). BACKGROUND: Male Phex mice have X-linked hypophosphatemic rickets (XLH), which includes osteomalacia of the otic capsule. The treatment for XLH is supplementation with phosphorus and calcitriol...
September 28, 2016: American Journal of Otolaryngology
Tabitha Tonsaker, Susan Law, Ilja Ormel, Cecilia Nease, Gillian Bartlett
BACKGROUND: Informal or family caregivers are important contributors to health and health care and require support to sustain their role and address particular challenges. An experience-based health website may be an accessible, effective way to offer caregivers peer support and ultimately better equip them to care for themselves and their loved ones. OBJECTIVES: This study investigated how caregivers access and use information on the Internet about caregiving and their perspectives on the design and features of a new personal health experiences (PHEx) website...
August 20, 2016: Family Practice
Ronald Domalaon, Brandon Findlay, Makanjuola Ogunsina, Gilbert Arthur, Frank Schweizer
Peptides present an attractive scaffold for the development of new anticancer lead agents due to their accessibility and ease of modification. Synthetic ultrashort cationic lipopeptides, with four amino acids or less conjugated to a fatty acid, were developed to retain the biological activity of longer peptides in a smaller molecular size. Herein, we report the activity of amphiphilic lipotripeptides, lipotripeptoids and lipotetrapeptides against breast (MDA-MB-231, JIMT-1), prostate (DU145) and pancreas (MiaPaCa2) epithelial cancer cell lines...
October 2016: Peptides
Gummadapu Sarat, Nuthalapati Priyanka, Meka Purna Venkata Prabhat, Chintamaneni Raja Lakshmi, Sujana Mulk Bhavana, Dharmavaram Ayesha Thabusum
Hypophosphatemic rickets (HR) is a type of hereditary rickets characterized by persistent hypophosphatemia and hyperphosphaturia. The most predominant type is inherited in an X-linked fashion and caused by mutation in the gene encoding the phosphate-regulating endopeptidase homolog, X-linked (PHEX), identified in 1995. The X-linked hypophosphatemic (XLH) rickets is a rare hereditary metabolic disorder with a prevalence of 1 in 20,000 and causes deficient calcification of mineralized structures such as bones and teeth resulting in dental problems in terms of delayed eruption, spontaneous periapical infections, and exfoliation...
2016: Case Reports in Dentistry
Raquel L Neves, Gabrielly M D Chiarantin, Fábio D Nascimento, João B Pesquero, Helena B Nader, Ivarne L S Tersariol, Marc D McKee, Adriana K Carmona, Nilana M T Barros
Proteolytic enzymes mediate the activation or inactivation of many physiologic and pathologic processes. The PHEX gene (Phosphate-regulating gene with homologies to endopeptidase on the X chromosome) encodes a metallopeptidase, which is mutated in patients with a prevalent form (1:20,000) of inherited rickets-X-linked hypophosphatemia (XLH). XLH shows growth retardation, hypophosphatemia, osteomalacia, and defective renal phosphate reabsorption and metabolism of vitamin D. Most PHEX studies have focused on bone, and recently we identified osteopontin (OPN) as the first protein substrate for PHEX, demonstrating in the murine model of XLH (Hyp mice) an increase in OPN that contributes to the osteomalacia...
August 2016: International Journal of Biochemistry & Cell Biology
Gabriel Á Martos Moreno, Cristina Aparicio, Carmen de Lucas, Helena Gil Peña, Jesús Argente
No abstract text is available yet for this article.
July 2016: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
Tingting Sui, Lin Yuan, Huan Liu, Mao Chen, Jichao Deng, Yong Wang, Zhanjun Li, Liangxue Lai
X-linked hypophosphatemia (XLH) is the most common cause of inheritable rickets, with an incidence of 1/20,000 in humans. Inactivation or mutation of the gene PHEX, a phosphate-regulating endopeptidase, leads to hypophosphatemia and defective bone mineralization in XLH patients. Presently, there is no adequate animal model for safety assessments of physiotherapies and drug screening for XLH rickets. In this study, an XLH model was generated via PHEX gene knockout (KO) through co-injection of Cas9/sgRNA mRNA into rabbit zygotes...
April 28, 2016: Human Molecular Genetics
Sathish K Murali, Olena Andrukhova, Erica L Clinkenbeard, Kenneth E White, Reinhold G Erben
X-linked hypophosphatemia (XLH) is the most frequent form of inherited rickets in humans caused by mutations in the phosphate-regulating gene with homologies to endopeptidases on the X-chromosome (PHEX). Hyp mice, a murine homologue of XLH, are characterized by hypophosphatemia, inappropriately low serum vitamin D levels, increased serum fibroblast growth factor-23 (Fgf23), and osteomalacia. Although Fgf23 is known to be responsible for hypophosphatemia and reduced vitamin D hormone levels in Hyp mice, its putative role as an auto-/paracrine osteomalacia-causing factor has not been explored...
April 2016: PLoS Biology
Gunda Hansen, Claus Lindvald Johansen, Gunvor Marten, Jacqueline Wilmes, Lene Jespersen, Nils Arneborg
In this study, we investigated the influence of three extracellular pH (pHex) values (i.e., 5.5, 6.5, and 7.5) on the growth, viability, cell size, acidification activity in milk, and intracellular pH (pHi) of Lactococcus lactis subsp. lactis DGCC1212 during pH-controlled batch fermentations. A universal parameter (e.g., linked to pHi) for the description or prediction of viability, specific acidification activity, or growth behavior at a given pHex was not identified. We found viability as determined by flow cytometry to remain high during all growth phases and irrespectively of the pH set point...
July 2016: Applied Microbiology and Biotechnology
Takaaki Yamada, Seiji Hasegawa, Yu Inoue, Mayumi Kunita, Kazuhisa Ohsumi, Tsutomu Sakaida, Youichi Yashiro, Satoru Nakata
Recently, it has been reported that increased expression of WNT1 accelerates the differentiation of melanocyte stem cells (McSCs) in solar lentigines (SLs), hyperpigmented maculae commonly seen on sun-exposed areas of the skin. In this study, to establish an in vitro SL model, human epidermal squamous carcinoma cell line HSC-1, which expresses higher levels of WNT1 than normal human epidermal keratinocytes, was co-cultured with early passage normal human epidermal melanocytes (NHEMs) as an in vitro McSC model...
July 2016: Bioscience, Biotechnology, and Biochemistry
Kok Siong Poon, Andrew Anjian Sng, Cindy Weili Ho, Evelyn Siew-Chuan Koay, Kah Yin Loke
Loss-of-function mutations in the phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) have been causally associated with X-linked hypophosphatemic rickets (XLHR). The early diagnosis of XLHR in infants is challenging when it is based solely on clinical features and biochemical findings. We report a 7-month-old boy with a family history of hypophosphatemic rickets., who demonstrated early clinical evidence of rickets, although serial biochemical findings could not definitively confirm rickets...
July 2015: Journal of Investigative Medicine High Impact Case Reports
Chen Fang, Hui Li, Xiaozhen Li, Wenjin Xiao, Yun Huang, Wu Cai, Yi Yang, Ji Hu
A new missense mutation on the X chromosome (PHEX) at exon 4(c.442C>T) in a 4-generation Chinese Han pedigree is reported. The proband and four family members were clinically identified as the X-linked hypophosphatemic rickets (XLH) which is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. The proband is identified as hemizygous with the four female family members to be heterozygous genotypes. The discovery was made through the complete sequencing of the exons and the intron-exon boundaries of the PHEX gene of this family...
May 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Anke Jeschke, Martin Bonitz, Maciej Simon, Stephanie Peters, Wolfgang Baum, Georg Schett, Wolfgang Ruether, Andreas Niemeier, Thorsten Schinke, Michael Amling
Although articular cartilage degeneration represents a major public health problem, the underlying molecular mechanisms are still poorly characterized. We have previously utilized genome-wide expression analysis to identify specific markers of porcine articular cartilage, one of them being Thrombospondin-4 (Thbs4). In the present study we analyzed Thbs4 expression in mice, thereby confirming its predominant expression in articular cartilage, but also identifying expression in other tissues, including bone. To study the role of Thbs4 in skeletal development and integrity we took advantage of a Thbs4-deficient mouse model that was analyzed by undecalcified bone histology...
2015: PloS One
Chen Weng, Jiao Chen, Li Sun, Zhong-Wei Zhou, Xue Feng, Jun-Hui Sun, Ling-Ping Lu, Ping Yu, Ming Qi
X-linked dominant hypophosphatemic rickets (XLHR), is characterized mainly by renal phosphate wasting with hypophosphatemia, short stature and abnormal bone mineralization. PHEX, located at Xp22.1-p22.2, is the gene causing XLHR. We aim to characterize the pathogenesis of a Chinese boy who is apparently 'heterozygous' in PHEX gene. Direct sequencing showed two peaks: one was a wild-type 'G' and the other was one base substitution to 'A', though the patient was a male. TA clone assay clearly showed each sequences and the ratios...
March 2016: Journal of Human Genetics
Hwajung Choi, Tak-Heun Kim, Chi-Young Yun, Jung-Wook Kim, Eui-Sic Cho
Odontoblasts differentiate from dental mesenchyme during dentin formation and mineralization. However, the molecular mechanisms controlling odontoblast differentiation remain poorly understood. Here, we show that expression of testicular acid phosphatase (ACPT) is restricted in the early stage of odontoblast differentiation in proliferating dental mesenchymal cells and secretory odontoblasts. ACPT is expressed earlier than tissue-nonspecific alkaline phosphatase (TNAP) and partly overlaps with TNAP in differentiating odontoblasts...
April 2016: Cell and Tissue Research
Silje Rafaelsen, Stefan Johansson, Helge Ræder, Robert Bjerknes
OBJECTIVE: Hereditary hypophosphatemias (HH) are rare monogenic conditions characterized by decreased renal tubular phosphate reabsorption. The aim of this study was to explore the prevalence, genotypes, phenotypic spectrum, treatment response, and complications of treatment in the Norwegian population of children with HH. DESIGN: Retrospective national cohort study. METHODS: Sanger sequencing and multiplex ligand-dependent probe amplification analysis of PHEX and Sanger sequencing of FGF23, DMP1, ENPP1KL, and FAM20C were performed to assess genotype in patients with HH with or without rickets in all pediatric hospital departments across Norway...
February 2016: European Journal of Endocrinology
Eva Adamova, Eva Janeckova, Karel Kleparnik, Eva Matalova
Caspases, well-known players in apoptosis or inflammation, appear to have roles also in other processes such as cell differentiation. Caspase-3, in particular, was recently demonstrated to have non-apoptotic functions in osteogenesis. However, the molecular pathways involved are not yet known. Therefore, we used osteogenic PCR arrays to provide a comprehensive screening of possible interactions of caspases in general and specifically of caspase-3 in osteogenic networks. Embryonic micromass cultures derived from mouse forelimbs were established and pharmacological fluoromethylketone (FMK) inhibitors applied...
February 2016: In Vitro Cellular & Developmental Biology. Animal
Sung-Woong Han, Takato Tamaki, Taiji Adachi
Selection of bone cells, particularly osteoblasts and osteocytes, for analysis of cellular processes and differentiation is a very important issue because bone remodeling is a highly complex and harmonized process, which includes molecular and cellular interactions and communications. In this study, we introduce a novel osteoblast and osteocyte selection method that uses atomic force microscopy and OB7.3, an antibody of Phex, which is a specific protein marker expressed on the surface of osteocytes. The elasticity and Phex expression levels were simultaneously detected by force spectroscopy using the OB7...
May 2015: Journal of Nanoscience and Nanotechnology
Toshimi Michigami
FGF23 produced mainly by osteocytes plays a central role in phosphate homeostasis by increasing the renal phosphate excretion and suppressing the vitamin D activation. Mutations in FGF23 and its regulatory molecules such as PHEX, DMP1, and FAM20C have been shown to be responsible for hereditary hypophosphatemic diseases. Patients and animal models of these hypophosphatemic conditions often manifest dental defects, whose etiology may include hypophosphatemia and impaired vitamin D action. In addition, the mechanisms specific to each responsible gene such as accumulated ASARM peptides in PHEX deficiency and the reduced DSPP expression in DMP1 deficiency are also involved in the pathogenesis of these dental problems...
November 2015: Clinical Calcium
Lőrinc Pongor, Máté Kormos, Christos Hatzis, Lajos Pusztai, András Szabó, Balázs Győrffy
BACKGROUND: The use of somatic mutations for predicting clinical outcome is difficult because a mutation can indirectly influence the function of many genes, and also because clinical follow-up is sparse in the relatively young next generation sequencing (NGS) databanks. Here we approach this problem by linking sequence databanks to well annotated gene-chip datasets, using a multigene transcriptomic fingerprint as a link between gene mutations and gene expression in breast cancer patients...
2015: Genome Medicine
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