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https://www.readbyqxmd.com/read/28073950/differential-coupling-of-gibberellin-responses-by-rht-b1c-suppressor-alleles-and-rht-b1b-in-wheat-highlights-a-unique-role-for-the-della-n-terminus-in-dormancy
#1
Karel Van De Velde, Peter Michael Chandler, Dominique Van Der Straeten, Antje Rohde
During the Green Revolution, substantial increases in wheat (Triticum aestivum) yields were realized, at least in part, through the introduction of the Reduced height (Rht)-B1b and Rht-D1b semi-dwarfing alleles. In contrast to Rht-B1b and Rht-D1b, the Rht-B1c allele is characterized by extreme dwarfism and exceptionally strong dormancy. Recently, 35 intragenic Rht-B1c suppressor alleles were created in the spring wheat cultivar Maringá, and termed overgrowth (ovg) alleles. Here, 14 ovg alleles with agronomically relevant plant heights were reproducibly classified into nine tall and five semi-dwarf alleles...
January 10, 2017: Journal of Experimental Botany
https://www.readbyqxmd.com/read/28061864/identification-of-brassinosteroid-genes-in-brachypodium-distachyon
#2
Claudia Corvalán, Sunghwa Choe
BACKGROUND: Brassinosteroids (BRs) are steroidal phytohormones that are involved in diverse physiological processes and affect many important traits, such as plant stature, stress tolerance, leaf angle, fertility, and grain filling. BR signaling and biosynthetic pathways have been studied in various plants, such as the model dicot Arabidopsis thaliana; however, relatively little is known about these pathways in monocots. RESULTS: To characterize BR-related processes in the model grass Brachypodium distachyon, we studied the response of these plants to the specific BR biosynthesis inhibitor, propiconazole (Pcz)...
January 6, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/28040779/forward-genetics-by-sequencing-ems-variation-induced-inbred-lines
#3
Charles Addo-Quaye, Elizabeth Buescher, Norman Best, Vijay Chaikam, Ivan Baxter, Brian P Dilkes
In order to leverage novel sequencing techniques for cloning genes in eukaryotic organisms with complex genomes, the false positive rate of variant discovery must be controlled for by experimental design and informatics. We sequenced five lines from three pedigrees of EMS mutagenized Sorghum bicolor, including a pedigree segregating a recessive dwarf mutant. Comparing the sequences of the lines, we were able to identify and eliminate error prone positions. One genomic region contained EMS mutant alleles in dwarfs that were homozygous reference sequence in wild-type siblings and heterozygous in segregating families...
December 30, 2016: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28027321/elevated-fibroblast-growth-factor-signaling-is-critical-for-the-pathogenesis-of-the-dwarfism-in-evc2-limbin-mutant-mice
#4
Honghao Zhang, Nobuhiro Kamiya, Takehito Tsuji, Haruko Takeda, Greg Scott, Sudha Rajderkar, Manas K Ray, Yoshiyuki Mochida, Benjamin Allen, Veronique Lefebvre, Irene H Hung, David M Ornitz, Tetsuo Kunieda, Yuji Mishina
Ellis-van Creveld (EvC) syndrome is a skeletal dysplasia, characterized by short limbs, postaxial polydactyly, and dental abnormalities. EvC syndrome is also categorized as a ciliopathy because of ciliary localization of proteins encoded by the two causative genes, EVC and EVC2 (aka LIMBIN). While recent studies demonstrated important roles for EVC/EVC2 in Hedgehog signaling, there is still little known about the pathophysiological mechanisms underlying the skeletal dysplasia features of EvC patients, and in particular why limb development is affected, but not other aspects of organogenesis that also require Hedgehog signaling...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/28018909/a-review-of-selected-genes-with-known-effects-on-performance-and-health-of-cattle
#5
REVIEW
Eduardo Casas, Marcus E Kehrli
There are genetic conditions that influence production in dairy and beef cattle. The objective of this review was to describe relevant genetic conditions that have been associated with productivity and health in cattle. Genes or genomic regions that have been identified as a candidate for the condition will be included, and the genetic basis of the condition will be defined. Genes and genetic conditions included in this review are bovine leukocyte adhesion deficiency, deficiency of the uridine monophosphate synthase, bovine chronic interstitial nephritis, horn development, myostatin, complex vertebral malformation, leptin, osteopetrosis, apoptosis peptide activating factor 1, chondrodysplastic dwarfism, caseins, calpastatin, umbilical hernia, lactoglobulin, citrullinemia, cholesterol deficiency, prions, thyroglobulin, diacylglycerol acyltransferase, syndactyly, maple syrup urine disease, slick hair, Factor XI deficiency, and μ-Calpain...
2016: Frontiers in Veterinary Science
https://www.readbyqxmd.com/read/28012999/epidural-anaesthesia-for-caesarean-section-in-pituitary-dwarfism
#6
Riuhua Li, Hongbo Li, Bao Lang
We describe the anaesthetic management for caesarean section in a 32-year-old patient with pituitary dwarfism. In addition to supportive treatment, we offered a postoperative epidural analgesia pump. The patient recovered well without any complications.
December 21, 2016: Anaesthesia, Critical Care & Pain Medicine
https://www.readbyqxmd.com/read/27987249/achondroplasia-development-pathogenesis-and-therapy
#7
REVIEW
David M Ornitz, Laurence Legeai-Mallet
Autosomal dominant mutations in Fibroblast Growth Factor Receptor 3 (FGFR3) cause Achondroplasia (Ach), the most common form of dwarfism in humans, and related chondrodysplasia syndromes that include Hypochondroplasia (Hch), Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN), and Thanatophoric dysplasia (TD). FGFR3 is expressed in chondrocytes and mature osteoblasts where it functions to regulate bone growth. Analysis of the mutations in FGFR3 revealed increased signaling through a combination of mechanisms that include stabilization of the receptor, enhanced dimerization, and enhanced tyrosine kinase activity...
December 17, 2016: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/27986804/dwarfism-and-altered-craniofacial-development-in-rabbits-is-caused-by-a-12-1-kb-deletion-at-the-hmga2-locus
#8
Miguel Carneiro, Dou Hu, John Archer, Chungang Feng, Sandra Afonso, Congying Chen, José A Blanco-Aguiar, Hervé Garreau, Samuel Boucher, Paula G Ferreira, Nuno Ferrand, Carl-Johan Rubin, Leif Andersson
The dwarf phenotype characterizes the smallest of rabbit breeds and is governed largely by the effects of a single dwarfing allele with an incompletely dominant effect on growth. Dwarf rabbits typically weigh under 1 kg and have altered craniofacial morphology. The dwarf allele is a recessive lethal and dwarf homozygotes die within a few days of birth. The dwarf phenotype is expressed in heterozygous individuals and rabbits from dwarf breeds homozygous for the wild-type allele are normal, although smaller when compared to other breeds...
December 16, 2016: Genetics
https://www.readbyqxmd.com/read/27942904/whole-genome-sequencing-reveals-a-potential-causal-mutation-for-dwarfism-in-the-miniature-shetland-pony
#9
Julia Metzger, Alana Christina Gast, Rahel Schrimpf, Janina Rau, Deborah Eikelberg, Andreas Beineke, Maren Hellige, Ottmar Distl
The Miniature Shetland pony represents a horse breed with an extremely small body size. Clinical examination of a dwarf Miniature Shetland pony revealed a lowered size at the withers, malformed skull and brachygnathia superior. Computed tomography (CT) showed a shortened maxilla and a cleft of the hard and soft palate which protruded into the nasal passage leading to breathing difficulties. Pathological examination confirmed these findings but did not reveal histopathological signs of premature ossification in limbs or cranial sutures...
December 9, 2016: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/27942472/cutis-tricolor-a-literature-review-and-report-of-five-new-cases
#10
Martino Ruggieri, Agata Polizzi, Carmelo Schepis, Massimiliano Morano, Serena Strano, Giuseppe Belfiore, Stefano Palmucci, Pietro Valerio Foti, Concetta Pirrone, Mario Roggini, Emanule David, Vincenzo Salpietro, Pietro Milone
BACKGROUND: Cutis tricolor is a skin abnormality consisting in a combination of congenital hyper- and hypopigmented skin lesions (in the form of paired macules, patches or streaks) in close proximity to each other in a background of normal skin. It is currently regarded as a twin-spotting (mosaic) phenomenon and today is clear that not all cases of cutis tricolor represent one single entity. This phenomenon has been reported so far either: (I) as an purely cutaneous trait; (II) as a part of a complex malformation phenotype (Ruggieri-Happle syndrome, RHS) including distinct facial features, eye (cataract), skeletal (skull and vertebral defects, and long bones dysplasia), nervous system (corpus callosum, cerebellar and white matter anomalies, cavum vergae and holoprosencephaly) and systemic abnormalities; (III) as a distinct type with multiple, disseminated smaller skin macules (cutis tricolor parvimaculata); and (IV) in association with other skin disturbances [e...
October 2016: Quantitative Imaging in Medicine and Surgery
https://www.readbyqxmd.com/read/27909443/mighty-dwarfs-arabidopsis-autoimmune-mutants-and-their-usages-in-genetic-dissection-of-plant-immunity
#11
REVIEW
Rowan van Wersch, Xin Li, Yuelin Zhang
Plants lack the adaptive immune system possessed by mammals. Instead they rely on innate immunity to defend against pathogen attacks. Genomes of higher plants encode a large number of plant immune receptors belonging to different protein families, which are involved in the detection of pathogens and activation of downstream defense pathways. Plant immunity is tightly controlled to avoid activation of defense responses in the absence of pathogens, as failure to do so can lead to autoimmunity that compromises plant growth and development...
2016: Frontiers in Plant Science
https://www.readbyqxmd.com/read/27898839/ap2-erf-transcription-factors-involved-in-response-to-tomato-yellow-leaf-curly-virus-in-tomato
#12
Ying Huang, Bao-Long Zhang, Sheng Sun, Guo-Ming Xing, Feng Wang, Meng-Yao Li, Yong-Sheng Tian, Ai-Sheng Xiong
Tomato yellow leaf curly virus (TYLCV), transmitted by the whitefly (), causes leaf curling and yellowing, plant dwarfism, and growth inhibition in tomato ( L.). The APETALA2 (AP2) and ethylene response factor (ERF) transcription factor (TF) family, the largest plant-specific TF family, was identified to function in plant development and pathogen defense. Our study aimed to analyze the mechanism underlying the function of ERF (SlERF) TFs in response to TYLCV infection and improve useful information to increase the resistance to TYLCV in tomato...
July 2016: Plant Genome
https://www.readbyqxmd.com/read/27886559/ectopic-expression-of-ga-2-oxidase-6-from-rapeseed-brassica-napus-l-causes-dwarfism-late-flowering-and-enhanced-chlorophyll-accumulation-in-arabidopsis-thaliana
#13
Jindong Yan, Xiaoying Liao, Reqing He, Ming Zhong, Panpan Feng, Xinmei Li, Dongying Tang, Xuanming Liu, Xiaoying Zhao
Gibberellins (GAs) are endogenous hormones that play an important role in higher plant growth and development. GA2-oxidase (GA2ox) promotes catabolism and inactivation of bioactive GAs or their precursors. In this study, we identified the GA2-oxidase gene, BnGA2ox6, and found it to be highly expressed in the silique and flower. Overexpression of BnGA2ox6 in Arabidopsis resulted in GA-deficiency symptoms, including inhibited elongation of the hypocotyl and stem, delayed seed germination, and late flowering. BnGA2ox6 overexpression reduced silique growth, but had no effect on seed development...
November 15, 2016: Plant Physiology and Biochemistry: PPB
https://www.readbyqxmd.com/read/27882938/neutral-sphingomyelinase-smpd3-deficiency-disrupts-the-golgi-secretory-pathway-and-causes-growth-inhibition
#14
Wilhelm Stoffel, Ina Hammels, Bitta Jenke, Erika Binczek, Inga Schmidt-Soltau, Susanne Brodesser, Astrid Schauss, Julia Etich, Juliane Heilig, Frank Zaucke
Systemic loss of neutral sphingomyelinase (SMPD3) in mice leads to a novel form of systemic, juvenile hypoplasia (dwarfism). SMPD3 deficiency in mainly two growth regulating cell types contributes to the phenotype, in chondrocytes of skeletal growth zones to skeletal malformation and chondrodysplasia, and in hypothalamic neurosecretory neurons to systemic hypothalamus-pituitary-somatotropic hypoplasia. The unbiased smpd3-/- mouse mutant and derived smpd3-/- primary chondrocytes were instrumental in defining the enigmatic role underlying the systemic and cell autonomous role of SMPD3 in the Golgi compartment...
November 24, 2016: Cell Death & Disease
https://www.readbyqxmd.com/read/27864442/two-trichome-birefringence-like-proteins-mediate-xylan-acetylation-which-is-essential-for-leaf-blight-resistance-in-rice
#15
Yaping Gao, Congwu He, Dongmei Zhang, Xiangling Liu, Zuopeng Xu, Yanbao Tian, Xue-Hui Liu, Shanshan Zang, Markus Pauly, Yihua Zhou, Baocai Zhang
Acetylation is a ubiquitous modification on cell wall polymers, which play a structural role in plant growth and stress defenses. However, the mechanisms for how crop plants accomplish cell wall polymer O-acetylation are largely unknown. Here, we report on the isolation and characterization of two trichome birefringence-like (tbl) mutants in rice (Oryza sativa), which are affected in xylan O-acetylation. ostbl1 and ostbl2 single mutant and the tbl1 tbl2 double mutant displayed a stunted growth phenotype with varied degree of dwarfism...
January 2017: Plant Physiology
https://www.readbyqxmd.com/read/27837313/cosmetic-lengthening-what-are-the-limits
#16
F Guerreschi, H Tsibidakis
OBJECTIVES: In the last decades, limb lengthening has not been limited to the treatment of patients with dwarfism and deformities resulting from congenital anomalies, trauma, tumor and infections, but, has also been used for aesthetic reasons. Cosmetic lengthening by the Ilizarov method with circular external fixation has been applied to individuals with constitutional short stature who wish to be taller. MATERIALS AND METHODS: From January 1985 to December 2010, the medical records of 63 patients with constitutional short stature (36 M, 27F; 126 legs) who underwent cosmetic bilateral leg lengthening using a hybrid advanced fixator according to the Ilizarov method, were reviewed, retrospectively...
December 2016: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/27833291/a-case-report-of-acampomelic-campomelic-dysplasia-and-operative-difficulties-in-cleft-palate-reconstruction
#17
M Pasupathy, Vasant Radhakrishnan, Hirji Sorab Adenwalla, Puthucode V Narayanan
Acampomelic campomelic dysplasia (CD) is a type of CD (CD; OMIM #114290), a rare form of congenital short-limbed dwarfism and is due to mutations in SOX9 gene family. Characteristic phenotypes of CD include bowing of the lower limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate and micrognathia. The bending of the long bones is not an obligatory feature and is absent in about 10% of cases, referred to as acampomelic CD...
May 2016: Indian Journal of Plastic Surgery: Official Publication of the Association of Plastic Surgeons of India
https://www.readbyqxmd.com/read/27815670/novel-rice-mutants-overexpressing-the-brassinosteroid-catabolic-gene-cyp734a4
#18
Wenjing Qian, Chao Wu, Yaping Fu, Guocheng Hu, Zhengquan He, Wenzhen Liu
Moderate overexpression of CYP734A4 improves grain number per main panicle and seed setting rate. Brassinosteroid (BR) homeostasis and signaling are crucial for plant growth and development. CYP734A genes encode cytochrome P450 monooxygenases that control the level of bioactive BRs by degrading BRs. However, fertile plants overexpressing CYP734As have not been reported in rice. Here, we isolated a novel semi-dominant mutant brd3-D, in which T-DNA was inserted approximately 4 kb upstream of the CYP734A4 gene (GenBank Accession AB488667), causing its overexpression...
November 4, 2016: Plant Molecular Biology
https://www.readbyqxmd.com/read/27802841/misexpression-of-attx12-encoding-a-toll-interleukin-1-receptor-domain-induces-growth-defects-and-expression-of-defense-related-genes-partially-independently-of-eds1-in-arabidopsis
#19
Sang-Kee Song
In this study, a tissue-specific GAL4/UAS activation tagging system was used for the characterization of genes which could induce lethality when ubiquitously expressed. A dominant mutant exhibiting stunted growth was isolated and named defective root development 1-D (drd1-D). The T-DNA tag was located within the promoter region of AtTX12, which is predicted to encode a truncated nucleotide-binding leucinerich repeat (NLR) protein, containing a Toll/interleukin-1 receptor (TIR) domain. The transcript levels of AtTX12 and defense-related genes were elevated in drd1-D, and the misexpression of AtTX12 recapitulated the drd1-D phenotypes...
December 2016: BMB Reports
https://www.readbyqxmd.com/read/27793082/dwarfism-with-joint-laxity-in-friesian-horses-is-associated-with-a-splice-site-mutation-in-b4galt7
#20
Peter A Leegwater, Manon Vos-Loohuis, Bart J Ducro, Iris J Boegheim, Frank G van Steenbeek, Isaac J Nijman, Glen R Monroe, John W M Bastiaansen, Bert W Dibbits, Leanne H van de Goor, Ids Hellinga, Willem Back, Anouk Schurink
BACKGROUND: Inbreeding and population bottlenecks in the ancestry of Friesian horses has led to health issues such as dwarfism. The limbs of dwarfs are short and the ribs are protruding inwards at the costochondral junction, while the head and back appear normal. A striking feature of the condition is the flexor tendon laxity that leads to hyperextension of the fetlock joints. The growth plates of dwarfs display disorganized and thickened chondrocyte columns. The aim of this study was to identify the gene defect that causes the recessively inherited trait in Friesian horses to understand the disease process at the molecular level...
October 28, 2016: BMC Genomics
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