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https://www.readbyqxmd.com/read/29659701/gain-of-function-mutation-of-atdice1-encoding-a-putative-endoplasmic-reticulum-localized-membrane-protein-causes-defects-in-anisotropic-cell-elongation-by-disturbing-cell-wall-integrity-in-arabidopsis
#1
Phi-Yen Le, Hyung-Woo Jeon, Min-Ha Kim, Eung-Jun Park, Hyoshin Lee, Indeok Hwang, Kyung-Hwan Han, Jae-Heung Ko
Background and Aims: Anisotropic cell elongation depends on cell wall relaxation and cellulose microfibril arrangement. The aim of this study was to characterize the molecular function of AtDICE1 encoding a novel transmembrane protein involved in anisotropic cell elongation in Arabidopsis. Methods: Phenotypic characterizations of transgenic Arabidopsis plants mis-regulating AtDICE1 expression with different pharmacological treatments were made, and biochemical, cell biological and transcriptome analyses were performed...
April 5, 2018: Annals of Botany
https://www.readbyqxmd.com/read/29652829/molecular-and-ultrastructural-mechanisms-underlying-yellow-dwarf-symptom-formation-in-wheat-after-infection-of-barley-yellow-dwarf-virus
#2
Wei Rong, Xindong Wang, Xifeng Wang, Sebastien Massart, Zengyan Zhang
Wheat ( Tritium aestivum L.) production is essential for global food security. Infection of barley yellow dwarf virus-GAV (BYDV-GAV) results in wheat showing leaf yellowing and plant dwarfism symptom. To explore the molecular and ultrastructural mechanisms underlying yellow dwarf symptom formation in BYDV-GAV-infected wheat, we investigated the chloroplast ultrastructure via transmission electron microscopy (TEM), examined the contents of the virus, H₂O₂, and chlorophyll in Zhong8601, and studied the comparative transcriptome through microarray analyses in the susceptible wheat line Zhong8601 after virus infection...
April 13, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29649050/temporal-bone-histopathology-in-cockayne-syndrome
#3
Ophir Handzel, Joseph B Nadol
: Cockayne syndrome (CS) is a rare autosomal recessive syndrome resulting in defective DNA repair. Its features include cachectic dwarfism, hearing loss, skin hypersensitivity to sunlight, premature aging, and dementia. Presented is a right temporal bone of a patient who died at the age of 29 years. The clinical course was compatible with type 1 CS, the classical form. Homozygous missense variant in the ERCC6 gene (Excision Repair Cross-Complementation group 6) was found, compatible with CS complementation group B...
April 11, 2018: Otology & Neurotology
https://www.readbyqxmd.com/read/29643796/a-rare-form-of-corneal-opacity-associated-with-spondyloepiphyseal-dysplasia-congenita
#4
Yuichiro Ishida, Shizuka Koh, Takashi Kaito, Kohji Nishida
A 13-year-old Japanese female diagnosed with spondyloepiphyseal dysplasia congenita (SEDC) was referred for ophthalmologic evaluation. Examination with slit-lamp and optical coherence tomography revealed bilateral thin cornea with diffuse corneal opacity which was localised at the posterior stromal depth in the central cornea. Unlike the two previously reported cases of diffuse and nodular patterns of corneal opacity in SEDC, the current case exhibited a rare form of corneal opacity. SEDC is one of the type II collagenopathies, characterised by dwarfism because the mutations in COL2A1 prevent bone growth...
January 2018: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/29627275/growth-impairment-in-mucopolysaccharidoses
#5
REVIEW
Melodie Melbouci, Robert W Mason, Yasuyuki Suzuki, Toshiyuki Fukao, Tadao Orii, Shunji Tomatsu
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders that affect regulation of glycosaminoglycan (GAG) processing. In MPS, the lysosomes cannot efficiently break down GAGs, and the specific GAGs accumulated depend on the type of MPS. The level of impairment of breakdown varies between patients, making this one of the many factors that lead to a range of clinical presentations even in the same type of MPS. These clinical presentations usually involve skeletal dysplasia, in which the most common feature is bone growth impairment and successive short stature...
March 16, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29618519/genetic-diversity-and-drivers-of-dwarfism-in-extinct-island-emu-populations
#6
Vicki A Thomson, Kieren J Mitchell, Rolan Eberhard, Joe Dortch, Jeremy J Austin, Alan Cooper
Australia's iconic emu ( Dromaius novaehollandiae novaehollandiae ) is the only living representative of its genus, but fossil evidence and reports from early European explorers suggest that three island forms (at least two of which were dwarfs) became extinct during the nineteenth century. While one of these-the King Island emu-has been found to be conspecific with Australian mainland emus, little is known about how the other two forms-Kangaroo Island and Tasmanian emus-relate to the others, or even the size of Tasmanian emus...
April 2018: Biology Letters
https://www.readbyqxmd.com/read/29610243/impact-of-centrosome-aberrations-on-chromosome-segregation-and-tissue-architecture-in-cancer
#7
Erich A Nigg, Dominik Schnerch, Olivier Ganier
Centrosomes determine the disposition of microtubule networks and thereby contribute to regulate cell shape, polarity, and motility, as well as chromosome segregation during cell division. Additionally, centrioles, the core components of centrosomes, are required for the formation of cilia and flagella. Mutations in genes coding for centrosomal and centriolar proteins are responsible for several human diseases, foremost ciliopathies and developmental disorders resulting in small brains (primary microcephaly) or small body size (dwarfism)...
April 2, 2018: Cold Spring Harbor Symposia on Quantitative Biology
https://www.readbyqxmd.com/read/29600532/sertoli-cells-for-cell-transplantation-pre-clinical-studies-and-future-perspectives
#8
REVIEW
G Luca, I Arato, G Sorci, D F Cameron, B C Hansen, T Baroni, R Donato, D G J White, R Calafiore
Sertoli cells are located in the testes where they control several key functions in spermatogenesis. Over the past 30 years, Sertoli cells have been upgraded from a simple scaffold-like structural system to a dynamic functional system of intercellular support that delivers potent immunomodulatory and trophic factors. Since the discovery of new Sertoli cell secretory products, these cells have been utilized in experimental cell transplantation and co-transplantation protocols aimed at treating both chronic inflammatory and degenerative disorders...
March 30, 2018: Andrology
https://www.readbyqxmd.com/read/29597095/speech-and-language-delay-in-a-patient-with-wdr4-mutations
#9
Xiang Chen, Yanyan Gao, Lin Yang, Bingbing Wu, Xinran Dong, Bo Liu, Yulan Lu, Wenhao Zhou, Huijun Wang
Primordial dwarfism (PD) is mainly characterized by growth deficiency with heterogeneous phenotypes. A group of genes are known to be associated with PD or PD-related syndrome. WD repeat domain 4 (WDR4) is recently reported to be responsible for PD. Here we report a 6-year-old boy from a non-consanguineous couple with motor and speech delay as well as intellectual disability. Whole exome sequencing (WES) identified a missense mutation (NM_033661.4:c.491A > C; p.(Asp164Ala)) and a small insertion (NM_033661...
March 26, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29552354/juvenile-hyposomatotropism-in-a-somali-cat-presenting-with-seizures-due-to-intermittent-hypoglycaemia
#10
Maya Laura König, Diana Henke, Katja Adamik, Cristina Pérez Vera
Case summary: A 3-month-old intact male Somali cat was evaluated for a history of seizures, hypoglycaemia and mental dullness 4 weeks after being bitten in the head by a dog. The cat's body size and weight were approximately half that of his littermates and its haircoat was woolly, with fewer guard hairs. Multiple hypoglycaemic episodes were documented over a period of 4 weeks, which resolved rapidly after correction of the hypoglycaemia. Juvenile hyposomatotropism was presumptively diagnosed by demonstrating low circulating levels of insulin-like growth factor 1 and after exclusion of other endocrine and non-endocrine causes of small stature and hypoglycaemia...
January 2018: JFMS Open Reports
https://www.readbyqxmd.com/read/29545269/rht18-semi-dwarfism-in-wheat-is-due-to-increased-expression-of-ga-2-oxidasea9-and-lower-ga-content
#11
Brett Ford, Eloise Foo, Robert E Sharwood, Miroslava Karafiatova, Jan Vrána, Colleen MacMillan, David S Nichols, Burkhard Steuernagel, Cristobal Uauy, Jaroslav Doležel, Peter Chandler, Wolfgang Spielmeyer
Semi-dwarfing genes have contributed to major yield increases in crop species by reducing height, improving lodging resistance, and partitioning more assimilates to grain growth. In wheat, the Rht18 semi-dwarfing gene was identified and deployed in durum wheat before it was transferred into bread wheat where it was shown to have agronomic potential. Rht18, a dominant and gibberellin (GA) responsive mutant, is genetically and functionally distinct from the widely used GA insensitive semi-dwarfing genes Rht-B1b and Rht-D1b...
March 15, 2018: Plant Physiology
https://www.readbyqxmd.com/read/29524649/the-intronic-cis-element-se1-recruits-trans-acting-repressor-complexes-to-repress-the-expression-of-elongated-uppermost-internode1-in-rice
#12
Yongyao Xie, Yaling Zhang, Jingluan Han, Jikai Luo, Gousi Li, Jianle Huang, Haibin Wu, Qingwei Tian, Qinlong Zhu, Yuanling Chen, Yoji Kawano, Yao-Guang Liu, Letian Chen
Plant height has a major effect on grain yield in crops such as rice (Oryza sativa), and the hormone gibberellic acid (GA) regulates many developmental processes that feed into plant height. Rice ELONGATED UPPERMOST INTERNODE 1 (Eui1) encodes a GA-deactivating enzyme governing elongation of uppermost internode. The expression of Eui1 is finely tuned, thereby maintaining homeostasis of endogenous bioactive GA and producing plants of normal plant height. Here, we identified a dominant dwarf mutant, dEui1, caused by the deletion of an RY motif-containing cis silencing element (SE1) in the intron of Eui1...
March 7, 2018: Molecular Plant
https://www.readbyqxmd.com/read/29516686/midazolam-inhibits-chondrogenesis-via-peripheral-benzodiazepine-receptor-in-human-mesenchymal-stem-cells
#13
Yung-Ching Chen, King-Chuen Wu, Bu-Miin Huang, Edmund Cheung So, Yang-Kao Wang
Midazolam, a benzodiazepine derivative, is widely used for sedation and surgery. However, previous studies have demonstrated that Midazolam is associated with increased risks of congenital malformations, such as dwarfism, when used during early pregnancy. Recent studies have also demonstrated that Midazolam suppresses osteogenesis of mesenchymal stem cells (MSCs). Given that hypertrophic chondrocytes can differentiate into osteoblast and osteocytes and contribute to endochondral bone formation, the effect of Midazolam on chondrogenesis remains unclear...
March 7, 2018: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29504076/ecotoxicological-assessment-of-perchlorate-using-in-vitro-and-in-vivo-assays
#14
Rosa Acevedo-Barrios, Consuelo Sabater-Marco, Jesus Olivero-Verbel
Perchlorate is an inorganic ion widespread in the environment, generated as a natural and anthropogenic pollutant, with known endocrine disruption properties in the thyroid gland. Nonetheless, there are few reports of its ecotoxicological impact on wildlife. The aim of this study was to evaluate the adverse effects of KClO4 exposure on different cell lines, HEK, N2a, and 3T3, as well as in ecological models such as Vibrio fischeri, Pseudokirchneriella subcapitata, Daphnia magna, and Eisenia fetida. Perchlorate exhibited similar toxicity against tested cell lines, with LC50 values of 19, 15, and 19 mM for HEK, N2a, and 3T3, respectively; whereas in V...
March 4, 2018: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/29496218/trabecular-bone-microarchitecture-analysis-a-way-for-an-early-detection-of-genetic-dwarfism-case-study-of-a-dwarf-mother-s-offspring
#15
Antony Colombo, Menno Hoogland, Hélène Coqueugniot, Olivier Dutour, Andrea Waters-Rist
A 66 year-old woman with a disproportionate dwarfism and who bore seven children was discovered at the Middenbeemster archaeological site (The Netherlands). Three are perinates and show no macroscopic or radiological evidence for a FGFR3 mutation causing hypo-or achondroplasia. This mutation induces dysfunction of the growth cartilage, leading to abnormalities in the development of trabecular bone. Because the mutation is autosomal dominant, these perinates have a 50% risk of having been affected. This study determines whether trabecular bone microarchitecture (TBMA) analysis is useful for detecting genetic dwarfism...
March 2018: International Journal of Paleopathology
https://www.readbyqxmd.com/read/29490606/identification-of-novel-loci-associated-with-maturity-and-yield-traits-in-early-maturity-soybean-plant-introduction-lines
#16
Tanya R Copley, Marc-Olivier Duceppe, Louise S O'Donoughue
BACKGROUND: To continue to meet the increasing demands of soybean worldwide, it is crucial to identify key genes regulating flowering and maturity to expand the cultivated regions into short season areas. Although four soybean genes have been successfully utilized in early maturity breeding programs, new genes governing maturity are continuously being identified suggesting that there remains as yet undiscovered loci governing agronomic traits of interest. The objective of this study was to identify novel loci and genes involved in a diverse set of early soybean maturity using genome-wide association (GWA) analyses to identify loci governing days to maturity (DTM), flowering (DTF) and pod filling (DTPF), as well as yield and 100 seed weight in Canadian environments...
March 1, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29471335/after-70-years-of-fighting-an-age-old-scourge-onchocerciasis-in-uganda-the-end-is-in-sight
#17
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
#18
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
#19
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
#20
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
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