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Disease Models & Mechanisms
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Papers 1495
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#1Valeria Valsecchi (UNITO: University of Turin)H-Index: 10
#2Marina Boido (UNITO: University of Turin)H-Index: 14
Last. Elena Signorino (UNITO: University of Turin)H-Index: 2
view all 15 authors...
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects both lower and upper motor neurons (MNs) in the central nervous system (CNS). ALS etiology is highly multifactorial and multifarious, and an effective treatment is still lacking. Neuroinflammation is a hallmark of ALS and could be targeted to develop new therapeutic approaches. Interestingly, the transcription factor Nurr1 has been demonstrated to play an important role in inflammatory process in several neurological...
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#1Eunjo Lee (Kyungpook National University Hospital)
#2Namkyung Kim (Kyungpook National University Hospital)
Last. Inkyeom Kim (Kyungpook National University Hospital)
view all 8 authors...
Objectives: High-salt or high-fructose intakes are risk factors for hypertension via oxidative stress and inflammation. T helper (Th)17 lymphocytes play an important role in the development of hypertension. We tested the hypothesis that activation of pathogenic Th17 lymphocytes induces hypertension after high-fructose intake in Dahl salt-sensitive (SS) but not Dahl salt-resistant (SR) rats. Methods: Eight-week-old male SS and SR rats were offered 20% fructose solution or tap water only for 4 wee...
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#1Sneh Harsh (GW: George Washington University)H-Index: 2
#2Yulong Fu (GW: George Washington University)
Last. Ioannis Eleftherianos (GW: George Washington University)H-Index: 19
view all 5 authors...
To gain a comprehensive view of the changes in host gene expression underlying Zika virus (ZIKV) pathogenesis, we performed whole-genome mRNAseq of ZIKV infected Drosophila adult flies. RNA-seq analysis revealed that ZIKV infection alters several and diverse biological processes including stress, locomotion, lipid metabolism, imaginal disc morphogenesis and regulation of JAK/STAT signaling, To explore the interaction between ZIKV infection and JAK/STAT signaling regulation, we generated genetic ...
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#1Cassandre Labelle-Dumais (UCSF: University of California, San Francisco)H-Index: 15
#2Goutham Pyatla (Manipal University)
Last. Rohit C Khanna (LVPEI: L V Prasad Eye Institute)H-Index: 17
view all 15 authors...
Glaucoma is a leading cause of blindness affecting up to 70 million people worldwide. High intraocular pressure (IOP) is a major risk factor for glaucoma. Inefficient aqueous humor (AqH) outflow resulting from structural or functional alterations in ocular drainage tissues are well established to cause high IOP, but the genes and pathways involved are poorly understood. We previously demonstrated that mutations in the gene encoding the serine protease PRSS56 induces ocular angle-closure and high...
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#1Kristin M. Ates (Georgia Regents University)
#2Tong Wang (Georgia Regents University)H-Index: 1
Last. Lynne A. Wolfe (NIH: National Institutes of Health)H-Index: 20
view all 20 authors...
A critical barrier in the treatment of endosomal and lysosomal diseases is the lack of understanding of the in vivo functions of the putative causative genes. We addressed this by investigating a key pair of endocytic adaptor proteins, PH domain containing endocytic trafficking adaptor 1 and 2 (PHETA1/2, also known as FAM109A/B, Ses1/2, IPIP27A/B), which interact with the protein product of OCRL, the causative gene for Lowe syndrome. Here we conducted the first study of PHETA1/2 in vivo, utilizi...
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Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy9s Disease, is a late-onset, X-linked, progressive neuromuscular disease, which predominantly affects males. The pathological hallmarks of the disease are defined by selective loss of spinal and bulbar motor neurons, accompanied by weakness, atrophy and fasciculations of bulbar and limb muscles. SBMA is caused by a CAG repeat expansion in the gene that encodes the androgen receptor (AR) protein. Disease manifestation is androgen dep...
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#1Dominic Friston (Imperial College London)H-Index: 2
#2Sini JunttilaH-Index: 9
Last. István Nagy (Imperial College London)H-Index: 13
view all 8 authors...
Burn injury is a pathology underpinned by progressive and aberrant inflammation. It is a major clinical challenge to survival and quality of life. While burn injury9s complex local and disseminating pathological processes ultimately stem from local tissue damage, to date relatively few studies have attempted to characterise the local inflammatory mediator profile. Here, cytokine content and associated transcriptional changes were measured in rat skin for three hours immediately following inducti...
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#1Jorge L. Rodriguez-Gil (University of Oxford)
Last. Frederick J. Boehm (UW: University of Wisconsin-Madison)H-Index: 5
view all 15 authors...
Niemann-Pick disease type C1 (NPC1) is a rare, fatal neurodegenerative disorder characterized by lysosomal accumulation of unesterified cholesterol and glycosphingolipids. These subcellular pathologies lead to phenotypes of hepatosplenomegaly, neurological degeneration, and premature death. NPC1 is extremely heterogeneous in the timing of clinical presentation and is associated with a wide spectrum of causative NPC1 mutations. To study the genetic architecture of NPC1, including the clinical and...
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#1Ankita M. Shah (GW: George Washington University)
#2Patrick Krohn (University of Hohenheim)H-Index: 1
Last. Sally A. Moody (GW: George Washington University)H-Index: 32
view all 9 authors...
Single nucleotide mutations in human SIX1 result in amino acid substitutions in either the protein-protein interaction domain or the homeodomain and cause about 4% of branchio-otic (BOS) and branchio-oto-renal (BOR) patients. The phenotypic variation between patients with the same mutation, even within affected members of the same family, make it difficult to functionally distinguish between the different SIX1 mutations. We made four of the BOS/BOR substitutions in the Xenopus Six1 protein (V17E...
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#1Carina Lund (UH: University of Helsinki)H-Index: 2
#2Venkatram Yellapragada (UH: University of Helsinki)H-Index: 2
Last. Timo Tuuri (UH: University of Helsinki)H-Index: 32
view all 11 authors...
GnRH neurons provide a fundamental signal for the onset of puberty and subsequent reproductive functions by secretion of gonadotropin-releasing hormone. Their disrupted development or function leads to congenital hypogonadotropic hypogonadism (CHH). To model the development of human GnRH neurons, we generated a stable GNRH1-TdTomato reporter cell line in human pluripotent stem cells by CRISPR-Cas9 genome editing. RNA sequencing of the reporter clone, differentiated into GnRH neurons by dual SMAD...
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