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https://www.readbyqxmd.com/read/28528685/igf-i-deficiency-longevity-and-cancer-protection-of-patients-with-laron-syndrome
#1
REVIEW
Zvi Laron, Rivka Kauli, Lena Lapkina, Haim Werner
Laron syndrome (LS) is a unique model of congenital IGF-I deficiency. It is characterized by dwarfism and obesity, and is caused by deletion or mutations of the growth hormone receptor (GH-R) gene. It is hypothesized that LS is an old disease originating in Indonesia and that the mutated gene spread to South Asia, the Middle East, the Mediterranean region and South America.
April 2017: Mutation Research
https://www.readbyqxmd.com/read/28523846/a-novel-rapid-analysis-using-mass-spectrometry-to-evaluate-downstream-refolding-of-recombinant-human-insulin-like-growth-factor-1-mecasermin
#2
Kenichiro Furuki, Toshimasa Toyo'oka, Hideto Yamaguchi
RATIONALE: Mecasermin is used to treat elevated blood sugar as well as growth hormone-resistant Laron-type dwarfism. Mecasermin isolated from inclusion bodies in extracts of E.coli must be refolded to acquire sufficient activity. However, there is no rapid analytical method for monitoring refolding during the purification process. METHODS: We prepared mecasermin drug product, in-process samples during the oxidation of mecasermin, forced-reduced mecasermin, and aerially oxidized mecasermin after forced reduction...
May 19, 2017: Rapid Communications in Mass Spectrometry: RCM
https://www.readbyqxmd.com/read/28516384/a-mutant-in-the-csdet2-gene-leads-to-a-systemic-brassinosteriod-deficiency-and-super-compact-phenotype-in-cucumber-cucumis-sativus-l
#3
Shanshan Hou, Huanhuan Niu, Qianyi Tao, Shenhao Wang, Zhenhui Gong, Sen Li, Yiqun Weng, Zheng Li
A novel dwarf cucumber mutant, scp-2, displays a typical BR biosynthesis-deficient phenotype, which is due to a mutation in CsDET2 for a steroid 5-alpha-reductase. Brassinosteroids (BRs) are a group of plant hormones that play important roles in the development of plant architecture, and extreme dwarfism is a typical outcome of BR-deficiency. Most cucumber (Cucumis sativus L.) varieties have an indeterminate growth habit, and dwarfism may have its value in manipulation of plant architecture and improve production in certain production systems...
May 17, 2017: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/28499542/development-of-a-taqman-based-real-time-pcr-assay-for-the-rapid-and-specific-detection-of-novel-duck-origin-goose-parvovirus
#4
Jianchang Wang, Jinfeng Wang, Yuan Cui, Huizhu Nan, Wanzhe Yuan
A real-time PCR assay was developed for specific detection of novel duck-origin goose parvovirus (N-GPV), the etiological agent of duck beak atrophy and dwarfism syndrome (BADS). The detection limit of the assay was 10(2) copies. The assay was useful in the prevention and control of BADS.
May 9, 2017: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/28497456/survivorship-and-complications-of-total-hip-arthroplasty-in-patients-with-dwarfism
#5
Ronuk M Modi, Michael M Kheir, Timothy L Tan, Gregory S Penny, Chi-Lung Chen, Hongyi Shao, Antonia F Chen
BACKGROUND: Total hip arthroplasty (THA) is a common procedure used to treat bony hip deformities and skeletal dysplasia in dwarfism. These surgeries are often more difficult than conventional THA as they may involve malformed joints and poor bone quality, and may require smaller prostheses. This study aims to investigate whether implant survivorship and revision rates vary among patients with and without dwarfism undergoing THA. METHODS: A retrospective case-control study was performed for 102 THAs completed between 1997 and 2014 in patients under the height threshold of 147...
May 10, 2017: Hip International: the Journal of Clinical and Experimental Research on Hip Pathology and Therapy
https://www.readbyqxmd.com/read/28479230/characterization-of-synthetic-ecdysteroid-analogues-as-functional-mimics-of-brassinosteroids-in-plant-growth
#6
Jutiporn Thussagunpanit, Kanapol Jutamanee, Sureeporn Homvisasevongsa, Apichart Suksamrarn, Ayumi Yamagami, Takeshi Nakano, Tadao Asami
Brassinosteroids (BRs) are plant steroidal hormones that play important roles in many stages of plant growth. Several plant species produce ecdysteroids, which are known as insect molting steroid hormones. In this study, we evaluated the biological activities of three hydroxysteroidal compounds, 20-hydroxyecdysone (ECD), 7,8-dihydro-8α-20-hydroxyecdysone (DHECD), and 7,8-dihydro-5a,8a-20-hydroxyecdysone (a-DHECD), and compared their activities with that of brassinolide (BL), the most potent BR. In rice, DHECD and a-DHECD enhanced the degree of lamina inclination, as do BRs...
May 4, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28463975/global-gene-expression-profiling-related-to-temperature-sensitive-growth-abnormalities-in-interspecific-crosses-between-tetraploid-wheat-and-aegilops-tauschii
#7
Ryusuke Matsuda, Julio Cesar Masaru Iehisa, Kouhei Sakaguchi, Ryoko Ohno, Kentaro Yoshida, Shigeo Takumi
Triploid wheat hybrids between tetraploid wheat and Aegilops tauschii sometimes show abnormal growth phenotypes, and the growth abnormalities inhibit generation of wheat synthetic hexaploids. In type II necrosis, one of the growth abnormalities, necrotic cell death accompanied by marked growth repression occurs only under low temperature conditions. At normal temperature, the type II necrosis lines show grass-clump dwarfism with no necrotic symptoms, excess tillers, severe dwarfism and delayed flowering. Here, we report comparative expression analyses to elucidate the molecular mechanisms of the temperature-dependent phenotypic plasticity in the triploid wheat hybrids...
2017: PloS One
https://www.readbyqxmd.com/read/28462984/endoplasmic-reticulum-retention-of-xylosyltransferase-1-xylt1-mutants-underlying-desbuquois-dysplasia-type-ii
#8
Nesreen K Al-Jezawi, Bassam R Ali, Lihadh Al-Gazali
Desbuquois syndrome is a heterogeneous rare type of skeletal dysplasia with a prevalence of less than 1 in 1,000,000 individuals. It is characterized by short-limbed dwarfism, dysmorphic facial features, and severe joint laxity. Two types have been recognized depending on the presence of distinctive carpal and phalangeal features. Mutations in the calcium activated nucleotidase 1 (CANT1) have been found to be responsible for type I and lately, for the Kim type of Desbuquois dysplasia. In addition, a number of Desbuquois dysplasia type II patients have been attributed to mutations in xylosyltransferase 1, encoded by the XYLT1 gene, an enzyme that catalyzes the transfer of UDP-xylose (a marker of cartilage destruction) to serine residues of an acceptor protein, essential for the biosynthesis of proteoglycans...
April 30, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28458931/dental-abnormalities-in-pituitary-dwarfism-a-case-report-and-review-of-the-literature
#9
Franco Ferrante, Sergio Blasi, Rolando Crippa, Francesca Angiero
Hypopituitarism is a disorder caused by a reduced level of trophic hormones that may be consequent on different destructive processes. The clinical manifestations depend on the type of hormone involved. A deficiency of growth hormone (GH) in children causes the lack of growth known as pituitary dwarfism. The case is reported of a patient with pituitary dwarfism, multiple dental anomalies, functional prosthetic problems, and a revision of the literature. She was subjected to prosthetic rehabilitation without surgical intervention, using zirconium substructures, thus eliminating the potential complications that may require trauma surgery...
2017: Case Reports in Dentistry
https://www.readbyqxmd.com/read/28458779/genetic-disorders-in-beef-cattle-a-review
#10
REVIEW
Aleksandra Ciepłoch, Karolina Rutkowska, Jolanta Oprządek, Ewa Poławska
The main purpose of present review is to describe and organize autosomal recessive disorders (arachnomelia, syndactylism, osteopetrosis, dwarfism, crooked tail syndrome, muscular hyperplasia, glycogen storage disease, protoporphyria), which occur among beef cattle, and methods that can be applied to detect these defects. Prevalence of adverse alleles in beef breeds happens due to human activity-selections of favorable features, e.g. developed muscle tissue. Unfortunately, carriers of autosomal recessive diseases are often characterized by these attributes...
2017: Genes & Genomics
https://www.readbyqxmd.com/read/28455404/a-rice-pectate-lyase-like-gene-is-required-for-plant-growth-and-leaf-senescence
#11
Yujia Leng, Yaolong Yang, Deyong Ren, Lichao Huang, Liping Dai, Yuqiong Wang, Long Chen, Zhengjun Tu, Yihong Gao, Xueyong Li, Li Zhu, Jiang Hu, Guangheng Zhang, Zhenyu Gao, Longbiao Guo, Zhaosheng Kong, Yongjun Lin, Qian Qian, Dali Zeng
To better understand the molecular mechanisms behind plant growth and leaf senescence in monocot plants, we identified a mutant exhibiting dwarfism and an early-senescence leaf phenotype, termed dwarf and early-senescence leaf (del1). Histological analysis showed that the abnormal growth was caused by a reduction in cell number. Further investigation revealed that the decline in cell number in del1 was affected by the cell cycle. Physiological analysis, transmission electron microscopy, and TUNEL assays showed that leaf senescence was triggered by the accumulation of reactive oxygen species...
April 28, 2017: Plant Physiology
https://www.readbyqxmd.com/read/28428794/fine-mapping-of-a-novel-defective-glume-1-dg1-mutant-which-affects-vegetative-and-spikelet-development-in-rice
#12
Haiping Yu, Banpu Ruan, Zhongwei Wang, Deyong Ren, Yu Zhang, Yujia Leng, Dali Zeng, Jiang Hu, Guangheng Zhang, Li Zhu, Zhenyu Gao, Guang Chen, Longbiao Guo, Wenfu Chen, Qian Qian
In cereal crops, vegetative and spikelet development play important roles in grain yield and quality, but the genetic mechanisms that control vegetative and spikelet development remain poorly understood in rice. Here, we identified a new rice mutant, defective glume 1 (dg1) mutant from cultivar Zhonghua11 after ethyl methanesulfonate treatment. The dg1 mutant displayed the dwarfism with small, rolled leaves, which resulted from smaller cells and more bulliform cells. The dg1 mutant also had an enlarged leaf angle and defects in brassinosteroid signaling...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28413198/engineering-the-lodging-resistance-mechanism-of-post-green-revolution-rice-to-meet-future-demands
#13
REVIEW
Ko Hirano, Reynante Lacsamana Ordonio, Makoto Matsuoka
Traditional breeding for high-yielding rice has been dependent on the widespread cultivation of gibberellin (GA)-deficient semi-dwarf varieties. Dwarfism lowers the "center of gravity" of the plant body, which increases resistance against lodging and enables plants to support high grain yield. Although this approach was successful in latter half of the 20th century in rice and wheat breeding, this may no longer be enough to sustain rice with even higher yields. This is because relying solely on the semi-dwarf trait is subject to certain limitations, making it necessary to use other important traits to reinforce it...
2017: Proceedings of the Japan Academy. Series B, Physical and Biological Sciences
https://www.readbyqxmd.com/read/28412605/brachytic-1-of-barley-hordeum-vulgare-l-encodes-the-%C3%AE-subunit-of-heterotrimeric-g-protein
#14
Ai Ito, Ayumi Yasuda, Kosuke Yamaoka, Minase Ueda, Akira Nakayama, Suguru Takatsuto, Ichiro Honda
Physiological and molecular biological analysis of the dwarf barley (Hordeum vulgare L.) mutant brachytic 1 (brh1) was conducted. The root responses of brh1 to brassinolide were weaker than those of wild type, but the responses of leaf segments of dark-grown plants were not. Responses of brh1 to gibberellin A3 were similar to or slightly stronger than those of wild type. Endogenous levels of these hormones in young seedlings were not clearly different between brh1 and wild type. Skotomorphogeneses of brh1 were similar to those of wild type...
March 23, 2017: Journal of Plant Physiology
https://www.readbyqxmd.com/read/28409412/microcephalic-osteodysplastic-primordial-dwarfism-type-ii-a-clinical-review
#15
REVIEW
Michael B Bober, Andrew P Jackson
PURPOSE OF THE REVIEW: This review will provide an overview of the microcephalic primordial dwarfism (MPD) class of disorders and provide the reader comprehensive clinical review with suggested care guidelines for patients with microcephalic osteodysplastic primordial dwarfism, type II (MOPDII). RECENT FINDINGS: Over the last 15 years, significant strides have been made in the diagnosis, natural history, and management of MOPDII. MOPDII is the most common and well described form of MPD...
April 13, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28396763/neonatal-mucolipidosis-type-ii-alpha-beta-due-to-compound-heterozygosity-for-a-known-and-novel-gnptab-mutation-and-a-concomitant-heterozygous-change-in-serpinf1-inherited-from-the-mother
#16
Kirsten A Wood, Regina M Zambrano, Bradley J Cheek, Christopher Arcement, Marie Haymon, Jessica Steinkampf, Srirangan Sampath, James C Hyland, Yves Lacassie
We report on a newborn with IUGR, rhizomelic dwarfism, and suspected chondrodysplasia punctata. At birth, OI was suspected; however, a skeletal survey suggested ML II alpha/beta. Sequencing revealed compound heterozygosity for a reported pathogenic and novel but expected pathogenic GNPTAB variant. Molecular testing for autosomal recessive OI identified a SERPINF1 variant.
April 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28381444/knotted1-cofactors-blh12-and-blh14-regulate-internode-patterning-and-vein-anastomosis-in-maize
#17
Katsutoshi Tsuda, Maria Jazmin Abraham-Juarez, Akiteru Maeno, Zhaobin Dong, Dale Aromdee, Robert Meeley, Toshihiko Shiroishi, Kenichi Nonomura, Sarah Hake
Monocot stems lack the vascular cambium and instead have characteristic structures in which intercalary meristems generate internodes and veins remain separate and scattered. Developmental processes of these unique structures, however, have been poorly described. BELL1-like Homeobox (BLH) transcription factors (TFs) are known to heterodimerize with KNOTTED1-like Homeobox (KNOX) TFs to play crucial roles in shoot meristem maintenance, but their functions are elusive in monocots. We found that maize BLH12 and BLH14 have redundant but important roles in stem development...
April 5, 2017: Plant Cell
https://www.readbyqxmd.com/read/28361952/usp9x-regulates-centrosome-duplication-and-promotes-breast-carcinogenesis
#18
Xin Li, Nan Song, Ling Liu, Xinhua Liu, Xiang Ding, Xin Song, Shangda Yang, Lin Shan, Xing Zhou, Dongxue Su, Yue Wang, Qi Zhang, Cheng Cao, Shuai Ma, Na Yu, Fuquan Yang, Yan Wang, Zhi Yao, Yongfeng Shang, Lei Shi
Defective centrosome duplication is implicated in microcephaly and primordial dwarfism as well as various ciliopathies and cancers. Yet, how the centrosome biogenesis is regulated remains poorly understood. Here we report that the X-linked deubiquitinase USP9X is physically associated with centriolar satellite protein CEP131, thereby stabilizing CEP131 through its deubiquitinase activity. We demonstrate that USP9X is an integral component of centrosome and is required for centrosome biogenesis. Loss-of-function of USP9X impairs centrosome duplication and gain-of-function of USP9X promotes centrosome amplification and chromosome instability...
March 31, 2017: Nature Communications
https://www.readbyqxmd.com/read/28351912/knox-protein-osh15-induces-grain-shattering-by-repressing-lignin-biosynthesis-genes
#19
Jinmi Yoon, Lae-Hyeon Cho, Htet Wai Antt, Hee-Jong Koh, Gynheung An
Seed shattering is an agronomically important trait. Two major domestication factors are responsible for this: qSH1 and SH5. Whereas qSH1 functions in cell differentiation in the abscission zone (AZ), a major role of SH5 is the repression of lignin deposition. We have determined that a KNOX protein, OSH15, also controls seed shattering. Knockdown mutations of OSH15 showed reduced seed-shattering phenotypes. Coimmunoprecipitation experiments revealed that OSH15 interacts with SH5 and qSH1, two proteins in the BELL homeobox family...
May 2017: Plant Physiology
https://www.readbyqxmd.com/read/28351423/epigenetic-aging-signatures-in-mice-livers-are-slowed-by-dwarfism-calorie-restriction-and-rapamycin-treatment
#20
Tina Wang, Brian Tsui, Jason F Kreisberg, Neil A Robertson, Andrew M Gross, Michael Ku Yu, Hannah Carter, Holly M Brown-Borg, Peter D Adams, Trey Ideker
BACKGROUND: Global but predictable changes impact the DNA methylome as we age, acting as a type of molecular clock. This clock can be hastened by conditions that decrease lifespan, raising the question of whether it can also be slowed, for example, by conditions that increase lifespan. Mice are particularly appealing organisms for studies of mammalian aging; however, epigenetic clocks have thus far been formulated only in humans. RESULTS: We first examined whether mice and humans experience similar patterns of change in the methylome with age...
March 28, 2017: Genome Biology
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