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The Yin and Yang of Autosomal Recessive Primary Microcephaly Genes: Insights from Neurogenesis and Carcinogenesis.

Xiaokun Zhou, Yiqiang Zhi, Jurui Yu, Dan Xu,

The stem cells of neurogenesis and carcinogenesis share many properties, including proliferative rate, an extensive replicative potential, the potential to generate different cell types of a given tissue, and an ability to independently migrate to a damaged area. This is also evidenced by the common molecular principles regulating key processes ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(5):]

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Cutaneous nodules and a novel GNAS mutation in a Chinese boy with pseudohypoparathyroidism type Ia: A case report and review of literature.

Yun-Ling Li, Ting Han, Fang Hong,

BACKGROUND:Pseudohypoparathyroidism type Ia (PHP Ia) is a rare hereditary syndrome, and patients with early PHP Ia are generally not diagnosed based on the presentation of cutaneous nodules as the main clinical feature. Here, we describe a Chinese boy with PHP Ia in whom the main clinical feature was cutaneous nodules, ... Read more >>

World J Clin Cases (World journal of clinical cases)
[2020, 8(3):587-593]

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Deep Learning in Physiological Signal Data: A Survey.

Beanbonyka Rim, Nak-Jun Sung, Sedong Min, Min Hong,

Deep Learning (DL), a successful promising approach for discriminative and generative tasks, has recently proved its high potential in 2D medical imaging analysis; however, physiological data in the form of 1D signals have yet to be beneficially exploited from this novel approach to fulfil the desired medical tasks. Therefore, in ... Read more >>

Sensors (Basel) (Sensors (Basel, Switzerland))
[2020, 20(4):]

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Epigenetic changes in fibroblasts drive cancer metabolism and differentiation.

Rajeev Mishra, Subhash Haldar, Surabhi Suchanti, Neil A Bhowmick,

Genomic changes that drive cancer initiation and progression contribute to the co-evolution of the adjacent stroma. The nature of the stromal reprogramming involves differential DNA methylation patterns and levels that change in response to the tumor and systemic therapeutic intervention. Epigenetic reprogramming in carcinoma-associated fibroblasts are robust biomarkers for cancer ... Read more >>

Endocr. Relat. Cancer (Endocrine-related cancer)
[2019, 26(12):R673-R688]

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A Survey of Heart Anomaly Detection Using Ambulatory Electrocardiogram (ECG).

Hong Zu Li, Pierre Boulanger,

Cardiovascular diseases (CVDs) are the number one cause of death globally. An estimated 17.9 million people die from CVDs each year, representing 31% of all global deaths. Most cardiac patients require early detection and treatment. Therefore, many products to monitor patient's heart conditions have been introduced on the market. Most ... Read more >>

Sensors (Basel) (Sensors (Basel, Switzerland))
[2020, 20(5):]

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Graph-based description of tertiary lymphoid organs at single-cell level.

Nadine S Schaadt, Ralf Schönmeyer, Germain Forestier, Nicolas Brieu, Peter Braubach, Katharina Nekolla, Michael Meyer-Hermann, Friedrich Feuerhake,

Our aim is to complement observer-dependent approaches of immune cell evaluation in microscopy images with reproducible measures for spatial composition of lymphocytic infiltrates. Analyzing such patterns of inflammation is becoming increasingly important for therapeutic decisions, for example in transplantation medicine or cancer immunology. We developed a graph-based assessment of lymphocyte ... Read more >>

PLoS Comput. Biol. (PLoS computational biology)
[2020, 16(2):e1007385]

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MicroRNAs and Metastasis.

Carla Solé, Charles H Lawrie,

Metastasis, the development of secondary malignant growths at a distance from the primary site of a cancer, is associated with almost 90% of all cancer deaths, and half of all cancer patients present with some form of metastasis at the time of diagnosis. Consequently, there is a clear clinical need ... Read more >>

Cancers (Basel) (Cancers)
[2019, 12(1):]

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Etv transcription factors functionally diverge from their upstream FGF signaling in lens development.

Ankur Garg, Abdul Hannan, Qian Wang, Neoklis Makrides, Jian Zhong, Hongge Li, Sungtae Yoon, Yingyu Mao, Xin Zhang,

The signal regulated transcription factors (SRTFs) control the ultimate transcriptional output of signaling pathways. Here, we examined a family of FGF-induced SRTFs - Etv1, Etv 4, and Etv 5 - in murine lens development. Contrary to FGF receptor mutants that displayed loss of ERK signaling and defective cell differentiation, Etv ... Read more >>

Elife (eLife)
[2020, 9:]

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Analysis of PMEPA1 Isoforms (a and b) as Selective Inhibitors of Androgen and TGF-β Signaling Reveals Distinct Biological and Prognostic Features in Prostate Cancer.

Shashwat Sharad, Zsófia M Sztupinszki, Yongmei Chen, Claire Kuo, Lakshmi Ravindranath, Zoltan Szallasi, Gyorgy Petrovics, Taduru L Sreenath, Albert Dobi, Inger L Rosner, Alagarsamy Srinivasan, Shiv Srivastava, Jennifer Cullen, Hua Li,

Dysfunctions of androgen/TGF-β signaling play important roles in prostate tumorigenesis. Prostate Transmembrane Protein Androgen Induced 1 (PMEPA1) inhibits androgen and TGF-β signaling via a negative feedback loop. The loss of PMEPA1 confers resistance to androgen signaling inhibitors and promotes bone metastasis. Conflicting reports on the expression and biological functions of ... Read more >>

Cancers (Basel) (Cancers)
[2019, 11(12):]

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GFAT1/HBP/O-GlcNAcylation Axis Regulates β-Catenin Activity to Promote Pancreatic Cancer Aggressiveness.

Chunzeng Jia, Hengchao Li, Deliang Fu, Yu Lan,

Reprogrammed glucose and glutamine metabolism are essential for tumor initiation and development. As a branch of glucose and metabolism, the hexosamine biosynthesis pathway (HBP) generates uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) and contributes to the O-GlcNAcylation process. However, the spectrum of HBP-dependent tumors and the mechanisms by which the HBP promotes tumor ... Read more >>

Biomed Res Int (BioMed Research International)
[2020, 2020:1921609]

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Increased HLA-DR expression and cortical demyelination in MS links with HLA-DR15.

Lukas Simon Enz, Thomas Zeis, Daniela Schmid, Florian Geier, Franziska van der Meer, Guido Steiner, Ulrich Certa, Thomas Martin Christian Binder, Christine Stadelmann, Roland Martin, Nicole Schaeren-Wiemers,

OBJECTIVE:To investigate molecular changes in multiple sclerosis (MS) normal-appearing cortical gray matter (NAGM). METHODS:We performed a whole-genome gene expression microarray analysis of human brain autopsy tissues from 64 MS NAGM samples and 42 control gray matter samples. We further examined our cases by HLA genotyping and performed immunohistochemical and immunofluorescent ... Read more >>

Neurol Neuroimmunol Neuroinflamm (Neurology(R) neuroimmunology & neuroinflammation)
[2020, 7(2):]

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Alternative Splicing of RAD6B and Not RAD6A is Selectively Increased in Melanoma: Identification and Functional Characterization.

Ambikai Gajan, Carly E Martin, Seongho Kim, Milap Joshi, Sharon K Michelhaugh, Ido Sloma, Sandeep Mittal, Steven Firestine, Malathy P V Shekhar,

Rad6B, a principal component of the translesion synthesis pathway, and activator of canonical Wnt signaling, plays an essential role in cutaneous melanoma development and progression. As Rad6 is encoded by two genes, namely, UBE2A (RAD6A) and UBE2B (RAD6B), in humans, we compared their expressions in melanomas and normal melanocytes. While ... Read more >>

Cells (Cells)
[2019, 8(11):]

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Tumors of the conjunctiva and cornea.

Carol L Shields, Jerry A Shields,

Tumors of the conjunctiva and cornea comprise a large and varied spectrum of conditions. These tumors are grouped into two major categories of congenital and acquired lesions. The acquired lesions are further subdivided based on origin of the mass into surface epithelial, melanocytic, vascular, fibrous, neural, histiocytic, myxoid, myogenic, lipomatous, ... Read more >>

Indian J Ophthalmol (Indian journal of ophthalmology)
[2019, 67(12):1930-1948]

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A Rare Cause of Optic Neuropathy.

Isabel O Cruz, Sara Alves Pereira, Bruna Vieira, Inês Chora, Paulo Coelho,

Lyme disease is a multisystem infection caused by Borrelia burgdorferi that mainly affects the joints, the heart, and the nervous system. Neurological complications usually manifest in untreated patients and present as meningitis, cranial neuropathies, and radiculoneuritis. The authors present the case of a 48-year-old male who developed loss of vision ... Read more >>

Cureus (Cureus)
[2020, 12(2):e6906]

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DNAJC14 Ameliorates Inner Ear Degeneration in the DFNB4 Mouse Model.

Hye Ji Choi, Hyun Jae Lee, Jin Young Choi, Ik Hyun Jeon, Byunghwa Noh, Sushil Devkota, Han-Woong Lee, Seong Kug Eo, Jae Young Choi, Min Goo Lee, Jinsei Jung,

The His723Arg (H723R) mutation in SLC26A4, encoding pendrin, is the most prevalent mutation in East Asia, resulting in DFNB4, an autosomal recessive type of genetic hearing loss. Although the main pathological mechanism of H723R was identified as a protein-folding defect in pendrin, there is still no curative treatment for associated ... Read more >>

Mol Ther Methods Clin Dev (Molecular therapy. Methods & clinical development)
[2020, 17:188-197]

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Disparate Central and Peripheral Effects of Circulating IGF-1 Deficiency on Tissue Mitochondrial Function.

Gavin Pharaoh, Daniel Owen, Alexander Yeganeh, Pavithra Premkumar, Julie Farley, Shylesh Bhaskaran, Nicole Ashpole, Michael Kinter, Holly Van Remmen, Sreemathi Logan,

Age-related decline in circulating levels of insulin-like growth factor (IGF)-1 is associated with reduced cognitive function, neuronal aging, and neurodegeneration. Decreased mitochondrial function along with increased reactive oxygen species (ROS) and accumulation of damaged macromolecules are hallmarks of cellular aging. Based on numerous studies indicating pleiotropic effects of IGF-1 during ... Read more >>

Mol. Neurobiol. (Molecular neurobiology)
[2020, 57(3):1317-1331]

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Transcriptional alterations in glioma result primarily from DNA methylation-independent mechanisms.

Franck Court, Elisa Le Boiteux, Anne Fogli, Mélanie Müller-Barthélémy, Catherine Vaurs-Barrière, Emmanuel Chautard, Bruno Pereira, Julian Biau, Jean-Louis Kemeny, Toufic Khalil, Lucie Karayan-Tapon, Pierre Verrelle, Philippe Arnaud,

In cancer cells, aberrant DNA methylation is commonly associated with transcriptional alterations, including silencing of tumor suppressor genes. However, multiple epigenetic mechanisms, including polycomb repressive marks, contribute to gene deregulation in cancer. To dissect the relative contribution of DNA methylation-dependent and -independent mechanisms to transcriptional alterations at CpG island/promoter-associated genes ... Read more >>

Genome Res. (Genome research)
[2019, 29(10):1605-1621]

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The regulatory pathways leading to stem-like cells underlie prostate cancer progression.

Chun-Jung Lin, U-Ging Lo, Jer-Tsong Hsieh,

Prostate cancer (PCa) is the most common cause of malignancy in males and the third leading cause of cancer mortality in the United States. The standard care for primary PCa with local invasive disease mainly is surgery and radiation. For patients with distant metastases, androgen deprivation therapy (ADT) is a ... Read more >>

Asian J. Androl. (Asian journal of andrology)
[2019, 21(3):233-240]

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Copy number gain of ZEB1 mediates a double-negative feedback loop with miR-33a-5p that regulates EMT and bone metastasis of prostate cancer dependent on TGF-β signaling.

Yuhu Dai, Zhengquan Wu, Chuandong Lang, Xin Zhang, Shaofu He, Qing Yang, Wei Guo, Yingrong Lai, Hong Du, Xinsheng Peng, Dong Ren,

Background: The reciprocal repressive loop between ZEB1 and miRNAs has been extensively reported to play an important role in tumor progression and metastasis of various human tumor types. The aim of this study was to elucidate the role and the underlying mechanism of the double-negative feedback loop between ZEB1and miR-33a-5p ... Read more >>

Theranostics (Theranostics)
[2019, 9(21):6063-6079]

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Immunotherapy Bridge 2019 and Melanoma Bridge 2019: meeting abstracts.

J Transl Med (Journal of translational medicine)
[2020, 18(Suppl 1):50]

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Resection of heterotopic ossification around the hip after trauma.

Nicolas de l'Escalopier, Marjorie Salga, Laure Gatin, François Genêt, Philippe Denormandie,

Traumatic neurological lesions may lead to development of heterotopic ossification. These cases are classified as 'neurogenic heterotopic ossifications' (NHOs). The associated neurological lesions can be caused by cranial trauma or spinal cord injury and may sometimes include a local trauma.NHOs that form around the hip joints are of particular interest ... Read more >>

EFORT Open Rev (EFORT open reviews)
[2019, 4(6):263-268]

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Spectrum of peripheral retinal ischemia in Wyburn-Mason syndrome.

Blake Fortes, James Lin, Supalert Prakhunhungsit, Carlos Mendoza-Santiesteban, Audina M Berrocal,

Purpose:We report two cases of Wyburn-Mason syndrome that illustrate the spectrum of peripheral retinal ischemia seen in this condition. Observations:A 12-year-old female presented with a retinal arteriovenous malformation and sclerotic vessels associated with retinal ischemia on fluorescein angiography, as well as an ipsilateral ophthalmic arteriovenous malformation on magnetic resonance imaging. ... Read more >>

Am J Ophthalmol Case Rep (American Journal of Ophthalmology Case Reports)
[2020, 18:100640]

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A critical role of PRDM14 in human primordial germ cell fate revealed by inducible degrons.

Anastasiya Sybirna, Walfred W C Tang, Merrick Pierson Smela, Sabine Dietmann, Wolfram H Gruhn, Ran Brosh, M Azim Surani,

PRDM14 is a crucial regulator of mouse primordial germ cells (mPGCs), epigenetic reprogramming and pluripotency, but its role in the evolutionarily divergent regulatory network of human PGCs (hPGCs) remains unclear. Besides, a previous knockdown study indicated that PRDM14 might be dispensable for human germ cell fate. Here, we decided to ... Read more >>

Nat Commun (Nature communications)
[2020, 11(1):1282]

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FOXK1, Regulated by miR-365-3p, Promotes Cell Growth and EMT Indicates Unfavorable Prognosis in Breast Cancer.

Fucun Gao, Juan Tian,

Background:Forkhead box K1 (FOXK1) is members of the FOX transcription factor family. Previous work has found out that FOXK1 promotes cell proliferation, migration and invasion in several cancers, such as gastric cancer, glioma cancer and lung cancer; however, the exact role of FOXK1 in breast cancer is still poorly known. ... Read more >>

Onco Targets Ther (OncoTargets and therapy)
[2020, 13:623-634]

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Acute Heart Failure in Scleroderma Renal Crisis: A Case Study for Review of Cardiac Disease in Systemic Sclerosis.

Abhimanyu Amarnani, Perry Wengrofsky, Cindy L Tsui, Pramod Theetha Kariyanna, Naureen Kabani, Louis Salciccioli, Isabel M McFarlane,

Am J Med Case Rep (American journal of medical case reports)
[2020, 8(1):1-7]

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