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https://www.readbyqxmd.com/read/28546991/structural-modeling-of-a-novel-slc38a8-mutation-that-causes-foveal-hypoplasia
#1
Marcus A Toral, Gabriel Velez, Katherine Boudreault, Kellie A Schaefer, Yu Xu, Norman Saffra, Alexander G Bassuk, Stephen H Tsang, Vinit B Mahajan
BACKGROUND: Foveal hypoplasia (FH) in the absence of albinism, aniridia, microphthalmia, or achromatopsia is exceedingly rare, and the molecular basis for the disorder remains unknown. FH is characterized by the absence of both the retinal foveal pit and avascular zone, but with preserved retinal architecture. SLC38A8 encodes a sodium-coupled neutral amino acid transporter with a preference for glutamate as a substrate. SLC38A8 has been linked to FH. Here, we describe a novel mutation to SLC38A8 which causes FH, and report the novel use of OCT-angiography to improve the precision of FH diagnosis...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28546946/comment-on-homozygosity-mapping-of-a-consanguineous-pakistani-family-affected-with-oculocutaneous-albinism-to-tyrosinase-gene
#2
Muzammil Ahmad Khan
No abstract text is available yet for this article.
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28543679/the-missing-the-short-and-the-long-l-dopa-responses-and-dopamine-actions
#3
Roger L Albin, Daniel K Leventhal
We attempt to correlate the clinical pharmacology of dopamine replacement therapy (DRT) in Parkinson Disease with known features of striatal dopamine actions. Despite its obvious impact, DRT does not normalize motor function, likely due to disrupted phasic dopaminergic signaling. The DRT Short Duration Response is likely a permissive-paracrine effect, possibly resulting from dopaminergic support of corticostriate synaptic plasticity. The DRT Long Duration Response may result from mimicry of tonic dopamine signaling regulation of movement vigor...
May 22, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28525403/genetic-diseases-associated-with-an-increased-risk-of-skin-cancer-development-in-childhood
#4
Alexander L Fogel, Kavita Y Sarin, Joyce M C Teng
PURPOSE OF REVIEW: Childhood skin cancers are relatively rare and may indicate an underlying genetic disorder. The increasing elucidation of genetic pathways is changing the diagnosis and management of genetic skin cancer susceptibility syndromes. In this review, we provide an overview of genetic conditions that predispose to skin cancer development in childhood and signs that providers should assess when evaluating affected individuals. RECENT FINDINGS: In basal cell nevus syndrome (BCNS), the patched2 (PTCH2) and suppressor of fused (SUFU) genes have been implicated in disease pathogenesis...
May 18, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28515449/the-role-of-stride-frequency-for-walk-to-run-transition-in-humans
#5
Ernst Albin Hansen, Lasse Andreas Risgaard Kristensen, Andreas Møller Nielsen, Michael Voigt, Pascal Madeleine
It remains unclear why humans spontaneously shift from walking to running at a certain point during locomotion at gradually increasing velocity. We show that a calculated walk-to-run transition stride frequency (70.6 ± 3.2 strides min(-1)) agrees with a transition stride frequency (70.8 ± 3.1 strides min(-1)) predicted from the two stride frequencies applied during treadmill walking and running at freely chosen velocities and freely chosen stride frequencies. The agreement is based on Bland and Altman's statistics...
May 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28507374/ophthalmo-genetic-analysis-of-pakistani-patients-with-nonsyndromic-oculocutaneous-albinism-through-whole-exome-sequencing
#6
Hadia Gul, Muhammad Zeeshan Ali, Ejazullah Khan, Muhammad Zubair, Muhammad Badar, Saadullah Khan, Abdul Haleem Shah, Muzammil Ahmad Khan
Oculocutaneous albinism (OCA) is a disorder of defective melanin biosynthesis that is characterized by hypo-pigmentation of skin, hair and retinal pigment epithelium. Phenotypically, OCA patients exhibit white milky skin, whitish to golden hair and deterioration of retinal cells. Until recently, genetic studies have reported seven causative genes (TYR, TYRP1, OCA2, SLC45A2, SLC24A2, C10ORF11 and MCIR) and an uncharacterized OCA5 locus. Herein we present the medico-genetic study of three Pakistani patients inheriting autosomal recessive OCA...
May 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28500349/quantitative-succinyl-proteome-profiling-of-camellia-sinensis-cv-anji-baicha-during-periodic-albinism
#7
Yan-Xia Xu, Chen-Jia Shen, Jian-Qiang Ma, Wei Chen, Juan Mao, Yan-Yan Zhou, Liang Chen
Lysine succinylation is a novel dynamic and evolutionarily conserved post-translational modification (PTM) that regulates various biological processes. 'Anji Baicha' is an albino tea variety that exhibits temperature-based variability of leaf colour and amino acid concentrations. However, the mechanism underlying albinism in 'Anji Baicha' has not been investigated at the level of succinylation. Here, we identify 3530 lysine succinylation sites mapped to 2132 proteins in 'Anji Baicha', representing the first extensive data on the lysine succinylome in the tea plant...
May 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28489287/broken-chains-and-reneging-a-review-of-1-748-kidney-paired-donation-transplants
#8
Nick Cowan, H Albin Gritsch, Nima Nisseri, Joe Sinacore, Jeffrey Veale
Concerns regarding the potential for broken chains and reneges within kidney paired donation (KPD) and its effect on chain length have been previously raised. While these concerns have been tested in simulation studies, "real world" data has yet to be evaluated. The purpose of this study was to evaluate the actual rate and cause of broken chains within a large KPD program. All patients undergoing renal transplantation through the National Kidney Registry from 2008 through May 2016 were included for analysis...
May 10, 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/28484254/crispr-cas9-mediated-mutation-of-tyrosinase-tyr-3-utr-induce-graying-in-rabbit
#9
Yuning Song, Yuxin Xu, Jichao Deng, Mao Chen, Yi Lu, Yong Wang, Haobin Yao, Lina Zhou, Zhiquan Liu, Liangxue Lai, Zhanjun Li
The 3' untranslated regions (UTRs), located at the end of mRNA molecules, are believed to play a role in RNA replication and/or protein translation. Mutations in the tyrosinase (Tyr) gene are known to cause recessive albinism in humans and other species. In this study, to test whether the CRISPR/Cas9 system works on the mutation of the UTRs regulatory region in rabbit, the 3' UTR of the rabbit Tyr gene was deleted by a dual sgRNA directed CRISPR/Cas9 system. As expected, gray coat color and reduced melanin in hair follicles and irises was found in the mutated rabbit, thus increasing confidence in the association of the mutation of the Tyr 3' UTR with graying in rabbit...
May 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28476893/bigger-is-not-better-cortisol-induced-cardiac-growth-and-dysfunction-in-salmonids
#10
Ida B Johansen, Erik Sandblom, Peter V Skov, Albin Gräns, Andreas Ekström, Ida G Lunde, Marco A Vindas, Lili Zhang, Erik Höglund, Michael Frisk, Ivar Sjaastad, Göran E Nilsson, Øyvind Øverli
Stress and elevated cortisol levels are associated with pathological heart growth and cardiovascular disease in humans and other mammals. We recently established a link between heritable variation in post-stress cortisol production and cardiac growth also in salmonid fish. A conserved stimulatory effect of the otherwise catabolic steroid hormone cortisol is likely implied, but has to date not been established experimentally. Furthermore, whereas cardiac growth is associated with failure of the mammalian heart, pathological cardiac hypertrophy has not previously been described in fish...
May 5, 2017: Journal of Experimental Biology
https://www.readbyqxmd.com/read/28476152/a-novel-nonsense-mutation-in-the-tyrosinase-gene-is-related-to-the-albinism-in-a-capuchin-monkey-sapajus-apella
#11
Felipe Tadeu Galante Rocha de Vasconcelos, Einat Hauzman, Leonardo Dutra Henriques, Paulo Roney Kilpp Goulart, Olavo de Faria Galvão, Ronaldo Yuiti Sano, Givago da Silva Souza, Jessica Lynch Alfaro, Luis Carlos de Lima Silveira, Dora Fix Ventura, Daniela Maria Oliveira Bonci
BACKGROUND: Oculocutaneous Albinism (OCA) is an autosomal recessive inherited condition that affects the pigmentation of eyes, hair and skin. The OCA phenotype may be caused by mutations in the tyrosinase gene (TYR), which expresses the tyrosinase enzyme and has an important role in the synthesis of melanin pigment. The aim of this study was to identify the genetic mutation responsible for the albinism in a captive capuchin monkey, and to describe the TYR gene of normal phenotype individuals...
May 5, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28474482/co2-assimilation-strategies-in-stratified-lakes-diversity-and-distribution-patterns-of-chemolithoautotrophs
#12
Albin Alfreider, Andreas Baumer, Teresa Bogensperger, Thomas Posch, Michaela M Salcher, Monika Summerer
While mechanisms of different carbon dioxide (CO2 ) assimilation pathways in chemolithoautotrohic prokaryotes are well understood for many isolates under laboratory conditions, the ecological significance of diverse CO2 fixation strategies in the environment is mostly unexplored. Six stratified freshwater lakes were chosen to study the distribution and diversity of the Calvin-Benson-Bassham (CBB) cycle, the reductive tricarboxylic acid (rTCA) cycle, and the recently discovered archaeal 3-hydroxypropionate/4-hydroxybutyrate (HP/HB) pathway...
May 4, 2017: Environmental Microbiology
https://www.readbyqxmd.com/read/28458669/differences-in-granule-morphology-yet-equally-impaired-exocytosis-among-cytotoxic-t-cells-and-nk-cells-from-chediak-higashi-syndrome-patients
#13
Samuel C C Chiang, Stephanie M Wood, Bianca Tesi, Himmet Haluk Akar, Waleed Al-Herz, Sandra Ammann, Fatma Burcu Belen, Umran Caliskan, Zühre Kaya, Kai Lehmberg, Turkan Patiroglu, Huseyin Tokgoz, Ayşegül Ünüvar, Wendy J Introne, Jan-Inge Henter, Magnus Nordenskjöld, Hans-Gustaf Ljunggren, Marie Meeths, Stephan Ehl, Konrad Krzewski, Yenan T Bryceson
Chediak-Higashi syndrome (CHS) is caused by autosomal recessive mutations in LYST, resulting in enlarged lysosomal compartments in multiple cell types. CHS patients display oculocutaneous albinism and may develop life-threatening hemophagocytic lymphohistiocytosis (HLH). While NK cell-mediated cytotoxicity has been reported to be uniformly defective, variable defects in T cell-mediated cytotoxicity has been observed. The latter has been linked to the degree of HLH susceptibility. Since the discrepancies in NK cell- and T cell-mediated cellular cytotoxicity might result from differences in regulation of cytotoxic granule release, we here evaluated perforin-containing secretory lysosome size and number in freshly isolated lymphocytes from CHS patients and furthermore compared their exocytic capacities...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28456763/female-white-collar-workers-remain-at-higher-risk-of-breast-cancer-after-adjustments-for-individual-risk-factors-related-to-reproduction-and-lifestyle
#14
Cecilia Kullberg, Jenny Selander, Maria Albin, Signe Borgquist, Jonas Manjer, Per Gustavsson
OBJECTIVES: The aim was to investigate the variation in risk of breast cancer between occupational groups with a focus on white-collar and blue-collar workers and to investigate to what extent the differences were explained by risk factors related to reproduction and lifestyle. METHODS: Between 1991 and 1996, 14 119 women born between 1923 and 1950 and residents of Malmö, Sweden, were included in this cohort study. Individual data on risk factors (eg, age, parity, age at first child, months of breast feeding per child, hormonal replacement therapy, physical activity, alcohol consumption, smoking, height and body mass index) and occupational history were assessed using a questionnaire...
April 29, 2017: Occupational and Environmental Medicine
https://www.readbyqxmd.com/read/28456452/oral-mass-revealing-ch%C3%A3-diak-higashi-syndrome
#15
T Tsuji, Y Uemura, Y Nakamura, S Nonoyama
This case report describes common oral inflammatory findings leading to the identification of Chédiak-Higashi syndrome (CHS). A 15-year-old girl presented with an enlarging and painful mass on the upper lip. Two weeks after the initial visit, the mass showed further protrusion in the absence of fever. Magnetic resonance imaging revealed a well-circumscribed cystic lesion with a thick capsule, and suggested an abscess derived from the mucous cyst in the upper lip. Inflammation indices were not elevated; however neutrophils were significantly lower than the normal level...
April 26, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28456133/variants-at-the-oca2-herc2-locus-affect-time-to-first-cutaneous-squamous-cell-carcinoma-in-solid-organ-transplant-recipients-collected-using-two-different-study-designs
#16
L Wei, D C Allain, M N Bernhardt, J L Gillespie, S B Peters, O H Iwenofu, H H Nelson, S T Arron, A E Toland
BACKGROUND: Variants at the Oculocutaneous albinism 2 (OCA2)/ HECT and RLD Domain Containing E3 Ubiquitin Protein Ligase 2 (HERC2) locus have been associated with pigmentation phenotypes as well as risk of developing multiple types of skin cancer. OBJECTIVES: The goal of this study was to evaluate OCA2/HERC2 locus variants for impact on time to develop cutaneous squamous cell carcinoma (cSCC) in organ transplant recipients (OTRs) who are at elevated risk of developing cSCC...
April 29, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28451379/retrospective-analysis-in-oculocutaneous-albinism-patients-for-the-2-7%C3%A2-kb-deletion-in-the-oca2-gene-revealed-a-co-segregation-of-the-controversial-variant-p-r305w
#17
Jackson Gao, Leera D'Souza, Keith Wetherby, Christian Antolik, Melissa Reeves, David R Adams, Santa Tumminia, Xinjing Wang
BACKGROUND: Oculocutaneous albinism (OCA) is an autosomal recessive disorder. A significant portion of OCA patients has been found with a single pathogenic variant either in the TYR or the OCA2 gene. Diagnostic sequencing of the TYR and OCA2 genes is routinely used for molecular diagnosis of OCA subtypes. To study the possibility that genomic abnormalities with single or multiple exon involvement may account for a portion of the potential missing pathogenic variants (the second), we retrospectively analyzed the TYR gene by long range PCR and analyzed the target 2...
2017: Cell & Bioscience
https://www.readbyqxmd.com/read/28438206/exogenous-gene-transfer-of-rab-3-8-small-gtpase-ameliorates-aberrant-lung-surfactant-homeostasis-in-ruby-rats
#18
Kazuhiro Osanai, Keisuke Nakase, Takashi Sakuma, Kazuaki Nishiki, Masafumi Nojiri, Ryo Kato, Masatoshi Saito, Yuki Fujimoto, Shiro Mizuno, Hirohisa Toga
BACKGROUND: Rab(3)8 small GTPase regulates intracellular transport in melanocytes and alveolar type II epithelial cells. Ruby rats carrying Rab(3)8 and other gene mutations exhibit oculocutaneous albinism, bleeding diathesis, and hence, are a rat model of human Hermansky-Pudlak syndrome (HPS). We previously showed that Long Evans Cinnamon (LEC) rats, one strain of the Ruby rats, developed aberrant lung surfactant homeostasis with remarkably enlarged lamellar bodies in alveolar type II cells...
April 24, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28433242/freeform-extrusion-fabrication-of-titanium-fiber-reinforced-13-93-bioactive-glass-scaffolds
#19
Albin Thomas, Krishna C R Kolan, Ming C Leu, Gregory E Hilmas
Although implants made with bioactive glass have shown promising results for bone repair, their application in repairing load-bearing long bone is limited due to their poor mechanical properties in comparison to human bone. This work investigates the freeform extrusion fabrication of bioactive silicate 13-93 glass scaffolds reinforced with titanium (Ti) fibers. A composite paste prepared with 13-93 glass and Ti fibers (~16µm in diameter and lengths varying from ~200µm to ~2 mm) was extruded through a nozzle to fabricate scaffolds (0-90° filament orientation pattern) on a heated plate...
June 2017: Journal of the Mechanical Behavior of Biomedical Materials
https://www.readbyqxmd.com/read/28432152/exposure-to-seawater-increases-intestinal-motility-in-euryhaline-rainbow-trout-oncorhynchus-mykiss
#20
Jeroen Brijs, Grant W Hennig, Albin Gräns, Esmée Dekens, Michael Axelsson, Catharina Olsson
Upon exposure to seawater, euryhaline teleosts need to imbibe and desalinate seawater to allow for intestinal ion and water absorption, as this is essential for maintaining osmotic homeostasis. Despite the potential benefits of increased mixing and transport of imbibed water for increasing the efficiency of absorptive processes, the effect of water salinity on intestinal motility in teleosts remains unexplored. By qualitatively and quantitatively describing in vivo intestinal motility of euryhaline rainbow trout (Oncorhynchus mykiss), this study demonstrates that in freshwater, the most common motility pattern consisted of clusters of rhythmic, posteriorly propagating contractions that lasted ∼1-2 minutes followed by a period of quiescence lasting ∼4-5 minutes...
April 21, 2017: Journal of Experimental Biology
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