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https://www.readbyqxmd.com/read/29471335/after-70-years-of-fighting-an-age-old-scourge-onchocerciasis-in-uganda-the-end-is-in-sight
#1
Moses N Katabarwa, Thomson Lakwo, Peace Habomugisha, Thomas R Unnasch, Rolf Garms, Lauri Hudson-Davis, Edson Byamukama, Annet Khainza, Johnson Ngorok, Edridah Tukahebwa, Frank O Richards
Onchocerciasis causes severe itching, serious skin disease and ocular damage leading to visual impairment or permanent blindness. It is associated with hanging groin, epilepsy, Nakalanga dwarfism and, most recently, nodding disease. This disease affected communities in 17 transmission foci in 37 districts of Uganda, where about 6.7 million people are once at risk. The efforts against onchocerciasis in Uganda commenced in the late 1940s, when vector control was launched using dichlorodiphenyltrichloroethane; by 1973, Simulium damnosum had been eliminated in the Victoria focus...
March 1, 2018: International Health
https://www.readbyqxmd.com/read/29465802/cholesterol-accumulation-by-suppression-of-smt1-leads-to-dwarfism-and-improved-drought-tolerance-in-herbaceous-plants
#2
Miao Chen, Jingjing Chen, Na Luo, Rongda Qu, Zhenfei Guo, Shaoyun Lu
Dwarfism and drought tolerance are two valuable traits in breeding of many crops. In this study we report the novel physiological roles of cholesterol in regulation of plant growth and drought tolerance. Compared to the wild type, sterol-C24-methyltransferase 1 (SMT1) gene transcript was greatly reduced in a bermudagrass mutant with dwarfism and enhanced drought tolerance, accompanied with cholesterol accumulation, elevated transcript levels of a small group of genes including SAMDC, and increased concentrations of putrescine (Put), spermidine (Spd) and spermine (Spm)...
February 21, 2018: Plant, Cell & Environment
https://www.readbyqxmd.com/read/29448155/characterization-of-a-superman-like-gene-mdsup11-in-apple-malus-%C3%A3-domestica-borkh
#3
Ke Xu, LiMin Wang, Na Liu, Xuan Xie, YuanDi Zhu
Arabidopsis SUPERMAN and its family members of its family play important roles in plant growth and floral organ development; yet much less is known about their functions expanding in apple tree development. Previous work has identified 12 SUP-like genes in the apple (Malus × domestica Borkh.) genome, and the MdSUP11 which is expressed in both vegetative and reproductive organs of apple. However, the function of MdSUP11 remains obscure. In this study, the β-glucuronidase expression driven by the MdSUP11 native promoter was detected in roots, young leaves, and floral organs of transgenic Arabidopsis...
December 6, 2017: Plant Physiology and Biochemistry: PPB
https://www.readbyqxmd.com/read/29440685/next-generation-sequencing-from-bulked-segregant-analysis-identifies-a-dwarfism-gene-in-watermelon
#4
Wei Dong, Defeng Wu, Guoshen Li, Dewei Wu, Zicheng Wang
Dwarfism is one of the most valuable traits in watermelon breeding mainly because of its contribution to yield as well as the decreased labor required to cultivate and harvest smaller plants. However, the underlying genetic mechanism is unknown. In this study, a candidate dwarfism gene was identified by applying next-generation sequencing technology to analyze watermelon plants. We completed a whole-genome re-sequencing of two DNA bulks (dwarf pool and vine pool) generated from plants in an F2population. A genome-wide analysis of single nucleotide polymorphisms resulted in the detection of a genomic region harboring the candidate dwarfism gene Cla010726...
February 13, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29383786/divergent-functions-of-the-gaga-binding-transcription-factor-family-in-rice
#5
Rong Gong, Huasheng Cao, Jianing Zhang, Kun Xie, Dianwen Wang, Sibin Yu
OsGBPs are a small family of four genes in rice (Oryza sativa L.) that function as transcription factors recognizing the GAGA motif. However their functions in plant growth and development remain unclear. Here we report the functions of OsGBPs in plant growth and grain development. Knockdown and knockout of OsGBP1 promoted seedling growth and enhanced grain length, while overexpression of OsGBP1 exhibited the opposite effect on seedling growth and grain length, indicating that OsGBP1 repressed grain length and seedling growth...
January 31, 2018: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/29378289/pnma-family-protein-interaction-network-and-cell-signalling-pathways-implicated-in-cancer-and-apoptosis
#6
REVIEW
Siew Wai Pang, Chandrajit Lahiri, Chit Laa Poh, Kuan Onn Tan
Paraneoplastic Ma Family (PNMA) comprises a growing number of family members which share relatively conserved protein sequences encoded by the human genome and is localized to several human chromosomes, including the X-chromosome. Based on sequence analysis, PNMA family members share sequence homology to the Gag protein of LTR retrotransposon, and several family members with aberrant protein expressions have been reported to be closely associated with the human Paraneoplastic Disorder (PND). In addition, gene mutations of specific members of PNMA family are known to be associated with human mental retardation or 3-M syndrome consisting of restrictive post-natal growth or dwarfism, and development of skeletal abnormalities...
January 26, 2018: Cellular Signalling
https://www.readbyqxmd.com/read/29370840/identification-of-compound-heterozygous-variants-in-the-noncoding-rnu4atac-gene-in-a-chinese-family-with-two-successive-foetuses-with-severe-microcephaly
#7
Ye Wang, Xueli Wu, Liu Du, Ju Zheng, Songqing Deng, Xin Bi, Qiuyan Chen, Hongning Xie, Claude Férec, David N Cooper, Yanmin Luo, Qun Fang, Jian-Min Chen
BACKGROUND: Whole-exome sequencing (WES) over the last few years has been increasingly employed for clinical diagnosis. However, one caveat with its use is that it inevitably fails to detect disease-causative variants that occur within noncoding RNA genes. Our experience in identifying pathogenic variants in the noncoding RNU4ATAC gene, in a Chinese family where two successive foetuses had been affected by severe microcephaly, is a case in point. These foetuses exhibited remarkably similar phenotypes in terms of their microcephaly and brain abnormalities; however, the paucity of other characteristic phenotypic features had made a precise diagnosis impossible...
January 25, 2018: Human Genomics
https://www.readbyqxmd.com/read/29362087/mutations-in-the-mit3-gene-encoding-a-caroteniod-isomerase-lead-to-increased-tiller-number-in-rice
#8
Lihua Liu, Tingting Xie, Peng Peng, Haiyang Qiu, Jinfeng Zhao, Jingjing Fang, Suyash Bhimgonda Patil, Yiqin Wang, Shuang Fang, Jinfang Chu, Shoujiang Yuan, Wenhui Zhang, Xueyong Li
Carotenoids not only play important roles in light harvesting and photoprotection against excess light, but also serve as precursors for apocaroteniod hormones such as abscisic acid (ABA) and strigolactones (SLs). Although light- and ABA-associated phenotypes of the carotenoid biosynthesis mutants such as albino, leaf variegation and preharvest sprouting have been studied extensively, the SLs-related branching phenotype is rarely explored. Here we characterized four allelic rice mutants named mit3, which exhibited moderately increased tiller number, semi-dwarfism and leaf variegation...
February 2018: Plant Science: An International Journal of Experimental Plant Biology
https://www.readbyqxmd.com/read/29356416/a-neuropathological-study-of-novel-rttn-gene-mutations-causing-a-familial-microcephaly-with-simplified-gyral-pattern
#9
Suzanne Chartier, Caroline Alby, Lucile Boutaud, Sophie Thomas, Nadia Elkhartoufi, Jelena Martinovic, Josseline Kaplan, Alexandra Benachi, Didier Lacombe, Pascale Sonigo, Séverine Drunat, Michel Vekemans, Joël Agenor, Férechté Encha Razavi, Tania Attie-Bitach
BACKGROUND: The RTTN gene encodes Rotatin, a large centrosomal protein involved in ciliary functions. RTTN mutations have been reported in seven families and are associated with two phenotypes: polymicrogyria associated with seizures and primary microcephaly associated with primordial dwarfism. CASE: A targeted exome sequencing of morbid genes causing cerebral malformations identified novel RTTN compound heterozygous mutations in a family where three pregnancies were terminated because a severe fetal microcephaly was diagnosed...
January 22, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29341480/cutis-laxa-and-excessive-bone-growth-due-to-de-novo-mutations-in-ptdss1
#10
Juliette Piard, James Lespinasse, Marketa Vlckova, Martin A Mensah, Sorin Iurian, Martina Simandlova, Marcela Malikova, Oliver Bartsch, Massimiliano Rossi, Marion Lenoir, Frédérique Nugues, Stefan Mundlos, Uwe Kornak, Philip Stanier, Sérgio B Sousa, Lionel Van Maldergem
The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a very rare phenotype associating cutis laxa, facial dysmorphism, severe growth retardation, hyperostotic skeletal dysplasia, and intellectual disability...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29341432/duck-beak-atrophy-and-dwarfism-syndrome-disease-complex-interplay-of-novel-goose-parvovirus-related-virus-and-duck-circovirus
#11
P Li, J Li, R Zhang, J Chen, W Wang, J Lan, Z Xie, S Jiang
As a newly emerged infectious disease, duck "beak atrophy and dwarfism syndrome (BADS)" disease has caused huge economic losses to waterfowl industry in China since 2015. Novel goose parvovirus-related virus (NGPV) is believed the main pathogen of BADS disease; however, BADS is rarely reproduced by infecting ducks with NGPV alone. As avian circovirus infection causes clinical symptoms similar to BADS, duck circovirus (DuCV) is suspected the minor pathogen of BADS disease. In this study, an investigation was carried out to determine the coinfection of NGPV and DuCV in duck embryos and in ducks with BADS disease...
January 16, 2018: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/29326877/natural-history-of-morquio-a-patient-with-tracheal-obstruction-from-birth-to-death
#12
Caitlin Doherty, Lauren W Averill, Mary Theroux, William G Mackenzie, Christian Pizarro, Robert W Mason, Shunji Tomatsu
Morquio A syndrome (mucopolysaccharidosis IVA, MPS IVA) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase, resulting in systemic accumulation of the partially degraded glycosaminoglycans (GAGs), keratan sulfate and chondroitin-6-sulfate. The accumulation of these GAGs leads to distinguishing features as skeletal dysplasia with disproportionate dwarfism, short neck, kyphoscoliosis, pectus carinatum, tracheal obstruction, coxa valga, genu valgum, and joint laxity...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29326476/dental-radiography-root-dwarfism
#13
M Fechine
No abstract text is available yet for this article.
January 12, 2018: British Dental Journal
https://www.readbyqxmd.com/read/29324790/frog-size-on-continental-islands-of-the-coast-of-rio-de-janeiro-and-the-generality-of-the-island-rule
#14
Raoni Rebouças, Hélio Ricardo da Silva, Mirco Solé
Island Rule postulated that individuals on islands tend to dwarfism when individuals from mainland populations are large and to gigantism when mainland populations present small individuals. There has been much discussion about this rule, but only few studies were carried out aiming to reveal this pattern for anurans. Our study focused on measuring the size of individuals on islands and to find a possible pattern of size modification for insular anurans. Individuals were collected on continental islands, measured and compared to mainland populations...
2018: PloS One
https://www.readbyqxmd.com/read/29323153/skeletal-characterization-of-the-fgfr3-mouse-model-of-achondroplasia-using-micro-ct-and-mri-volumetric-imaging
#15
Mohammed Salman Shazeeb, Megan K Cox, Anurag Gupta, Wen Tang, Kuldeep Singh, Cynthia T Pryce, Robert Fogle, Ying Mu, William D Weber, Dinesh S Bangari, Xiaoyou Ying, Yves Sabbagh
Achondroplasia, the most common form of dwarfism, affects more than a quarter million people worldwide and remains an unmet medical need. Achondroplasia is caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene which results in over-activation of the receptor, interfering with normal skeletal development leading to disproportional short stature. Multiple mouse models have been generated to study achondroplasia. The characterization of these preclinical models has been primarily done with 2D measurements...
January 11, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29321360/ellis-van-creveld-syndrome-and-profound-deafness-resulted-by-sequence-variants-in-the-evc-evc2-and-tmc1-genes
#16
Muhammad Umair, Heide Seidel, Ishtiaq Ahmed, Asmat Ullah, Tobias B Haack, Bader Alhaddad, Abid Jan, Afzal Rafique, Tim M Strom, Farooq Ahmad, Thomas Meitinger, Wasim Ahmad
Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, dysplastic nails, cardiovascular malformations, post-axial polydactyly (PAP) (bilateral) of hands and feet. EVC/EVC2 located in head-to-head arrangement on chromosome 4p16 are the causative genes for EvC syndrome. In the study, we present two families, A and B, with Pakistani and Republic of Kosovo origin, respectively. They showed features of EvC syndrome and were clinically and genetically characterized...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29301041/poplar-myb-transcription-factor-ptrmyb012-and-its-arabidopsis-atgamyb-orthologs-are-differentially-repressed-by-the-arabidopsis-mir159-family
#17
Min-Ha Kim, Jin-Seong Cho, Ji-Hoon Lee, So-Young Bae, Young-Im Choi, Eung-Jun Park, Hyoshin Lee, Jae-Heung Ko
A phenotype-based screening of the T1 transgenic Arabidopsis population transformed by overexpression constructs of the entire poplar MYB transcription factor family found that overexpression of a poplar MYB transcription factor, PtrMYB012, in Arabidopsis resulted in upwardly curled rosette leaves, dwarfism and male sterility. Sequence analysis identified that PtrMYB012 is homologous to the Arabidopsis GAMYB genes (e.g., AtMYB65 and AtMYB33). Gene expression analysis revealed that PtrMYB012 is specifically expressed in floral tissues, especially in male catkins, similar to AtMYB65...
December 28, 2017: Tree Physiology
https://www.readbyqxmd.com/read/29300871/leadless-pacemaker-implantation-in-achondroplastic-dwarfism-and-recurrent-cardiac-implantable-electronic-device-infections-a-case-report
#18
Giovanni Morani, Bruna Bolzan, Gianluca Borio, Luca Tomasi, Flavio Luciano Ribichini
No abstract text is available yet for this article.
December 29, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29287114/postnatal-lethality-and-chondrodysplasia-in-mice-lacking-both-chondroitin-sulfate-n-acetylgalactosaminyltransferase-1-and-2
#19
Miki Shimbo, Riku Suzuki, Sayaka Fuseya, Takashi Sato, Katsue Kiyohara, Kozue Hagiwara, Risa Okada, Hiromasa Wakui, Yuki Tsunakawa, Hideto Watanabe, Koji Kimata, Hisashi Narimatsu, Takashi Kudo, Satoru Takahashi
Chondroitin sulfate (CS) is a sulfated glycosaminoglycan (GAG) chain. In cartilage, CS plays important roles as the main component of the extracellular matrix (ECM), existing as side chains of the major cartilage proteoglycan, aggrecan. Six glycosyltransferases are known to coordinately synthesize the backbone structure of CS; however, their in vivo synthetic mechanism remains unknown. Previous studies have suggested that two glycosyltransferases, Csgalnact1 (t1) and Csgalnact2 (t2), are critical for initiation of CS synthesis in vitro...
2017: PloS One
https://www.readbyqxmd.com/read/29245270/spondylectomy-and-lateral-lumbar-interbody-fusion-for-thoracolumbar-kyphosis-in-an-adult-with-achondroplasia-a-case-report
#20
Masashi Miyazaki, Shozo Kanezaki, Naoki Notani, Toshinobu Ishihara, Hiroshi Tsumura
RATIONALE: Fixed thoracolumbar kyphosis with spinal stenosis in adult patients with achondroplasia presents a challenging issue. We describe the first case in which spondylectomy and minimally invasive lateral access interbody arthrodesis were used for the treatment of fixed severe thoracolumbar kyphosis and lumbar spinal canal stenosis in an adult with achondroplasia. PATIENT CONCERNS: A 61-year-old man with a history of achondroplastic dwarfism presented with low back pain and radiculopathy and neurogenic claudication...
December 2017: Medicine (Baltimore)
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