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https://www.readbyqxmd.com/read/29209812/genome-characterization-of-an-argentinean-isolate-of-alfalfa-leaf-curl-virus
#1
Nicolás Bejerman, Verónica Trucco, Soledad de Breuil, Patricia Rodriguez Pardina, Sergio Lenardon, Fabián Giolitti
We investigated the molecular characteristics of an Argentinean isolate of alfalfa leaf curl virus (ALCV-Arg), a virus of the genus Capulavirus in the family Geminiviridae that was isolated from alfalfa plants showing dwarfism. The genome was found to be 2,750 nucleotides in length. In pairwise comparisons, this ALCV isolate shared 83.2% to 92.6% sequence identity with European ALCV isolates. Sequence comparisons and phylogenetic analysis showed that this isolate combines features of strains A and B of ALCV...
December 5, 2017: Archives of Virology
https://www.readbyqxmd.com/read/29203634/mediator-complex-subunits-med2-med5-med16-and-med23-genetically-interact-in-the-regulation-of-phenylpropanoid-biosynthesis
#2
Whitney L Dolan, Brian P Dilkes, Jake M Stout, Nicholas D Bonawitz, Clint Chapple
The phenylpropanoid pathway is a major global carbon sink and is important for plant fitness and the engineering of bioenergy feedstocks. In Arabidopsis thaliana, disruption of two subunits of the transcriptional regulatory Mediator complex, MED5a and MED5b, results in an increase in phenylpropanoid accumulation. By contrast, the semi-dominant MED5b mutation reduced epidermal fluorescence4-3 (ref4-3) results in dwarfism and constitutively repressed phenylpropanoid accumulation. Here we report the results of a forward genetic screen for suppressors of ref4-3...
December 4, 2017: Plant Cell
https://www.readbyqxmd.com/read/29170911/characterization-of-an-acetohydroxy-acid-synthase-mutant-conferring-tolerance-to-imidazolinone-herbicides-in-rice-oryza-sativa
#3
Zhongze Piao, Wei Wang, Yinan Wei, Francesco Zonta, Changzhao Wan, Jianjiang Bai, Shujun Wu, Xinqi Wang, Jun Fang
The acetohydroxy acid synthase S627N mutation confers herbicide tolerance in rice, and the rice variety containing this mutation produces good yields. This variety is commercially viable at Shanghai and Jiangsu regions in China. Weedy rice is a type of rice that produces lower yields and poorer quality grains than cultivated rice. It plagues commercial rice fields in many countries. One strategy to control its proliferation is to develop rice varieties that are tolerant to specific herbicides. Acetohydroxy acid synthase (AHAS) mutations have been found to confer herbicide tolerance to rice...
November 23, 2017: Planta
https://www.readbyqxmd.com/read/29147600/osteoglophonic-dysplasia-phenotypic-and-radiological-clues
#4
Shwetha Kuthiroly, Dhanya Yesodharan, Aneesh Ghosh, Kenneth E White, Sheela Nampoothiri
Osteoglophonic dysplasia (OD) is an extremely rare, skeletal dysplasia with an autosomal dominant mode of inheritance. Rhizomelic dwarfism, craniosynostosis, impacted teeth, hypodontia or anodontia, and multiple nonossifying bone lesions are the salient features of this condition. We report a 14-year-old girl with clinical and radiological features consistent with OD. She presented with disproportionate short stature, craniosynostosis, a prominent supraorbital ridge, delayed teeth eruption, hypodontia, and multiple nonossifying bone lesions in the femur, tibia, and fibula...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29143488/isolation-and-characterization-of-novel-goose-parvovirus-related-virus-reveal-the-evolution-of-waterfowl-parvovirus
#5
P Li, S Lin, R Zhang, J Chen, D Sun, J Lan, S Song, Z Xie, S Jiang
Short beak and dwarfism syndrome (SBDS) has been constantly breaking out in China since 2015. It is caused by a novel goose parvovirus-related virus (NGPV) and can severely restrict the growth of ducks. In this study, seven NGPV stains were isolated from different regions in China between 2015 and 2016. To better understand the correlation between NGPV and goose parvovirus (GPV), we conducted complete genome sequencing and a comprehensive analysis of the NGPV genome. The phylogenetic and alignment analysis showed that NGPV is a branch of GPV, sharing 92...
November 16, 2017: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/29103688/pathogenicity-of-pekin-duck-and-goose-origin-parvoviruses-in-pekin-ducklings
#6
Kang Ning, Minghang Wang, Shenghua Qu, Junfeng Lv, Lixin Yang, Dabing Zhang
Goose parvovirus (GPV) usually affects goslings and Muscovy ducks but not Pekin ducks. Earlier works showed that a variant GPV can cause short beak and dwarfism syndrome (SBDS) in Pekin ducks. Here, we investigated the pathogenicity of a variant GPV of Pekin duck-origin (JS1) and a classical GPV of goose-origin (H) in Pekin ducklings. Following intramuscular infection at two days of age, both JS1 and H strains influenced weight gain and development of beaks and bones of wings and legs, and caused microscopic lesions of internal organs of ducks...
October 2017: Veterinary Microbiology
https://www.readbyqxmd.com/read/29090430/hybrid-incompatibilities-in-interspecific-crosses-between-tetraploid-wheat-and-its-wild-diploid-relative-aegilops-umbellulata
#7
Moeko Okada, Kentaro Yoshida, Shigeo Takumi
Hybrid abnormalities, severe growth abortion and grass-clump dwarfism, were found in the tetraploid wheat/Aegilops umbellulata hybrids, and the gene expression changes were conserved in the hybrids with those in other wheat synthetic hexaploids. Aegilops umbellulata Zhuk., a diploid goatgrass species with a UU genome, has been utilized as a genetic resource for wheat breeding. Here, we examine the reproductive barriers between tetraploid wheat cultivar Langdon (Ldn) and various Ae. umbellulata accessions by conducting interspecific crossings...
October 31, 2017: Plant Molecular Biology
https://www.readbyqxmd.com/read/29079071/occult-spinal-cord-injury-after-blunt-force-trauma-in-a-patient-with-achondroplasia-a-case-report-and-review-of-trauma-management-strategy
#8
Martin Huecker, Zach Harris, Eric Yazel
BACKGROUND: Achondroplastic dwarfism is associated with anatomic abnormalities that can predispose to occult injury and challenges in trauma management. Airway anatomy is problematic due to macrocephaly, midface hypoplasia, and a narrow nasopharynx. Manipulation of the neck is very dangerous due to the high likelihood of preexisting cervicomedullary stenosis. Restrictive lung disease and obstructive sleep apnea may complicate respiratory status. Peripheral and central venous access can be difficult to obtain...
October 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29070618/successful-obstetric-and-anaesthetic-management-of-a-pregnant-woman-with-achondroplasia
#9
Rauf Melekoglu, Ebru Celik, Sevil Eraslan
Achondroplasia is the most prevalent form of dwarfism, and there is little evidence about the optimal management of pregnant women with achondroplasia. We presented a 25-year-old primigravid woman with achondroplasia who was followed up during the pregnancy period and performed elective caesarean section with combined spinal-epidural anaesthesia at the 38th week of gestation. Frequent obstetric follow-up visits and invasive prenatal diagnostic tests should be offered during the antenatal period due to the increased risk for obstetric complications, such as premature delivery and fetal anomalies...
October 25, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29045007/chromatin-remodeling-factor-osino80-is-involved-in-regulation-of-gibberellin-biosynthesis-and-is-crucial-for-rice-plant-growth-and-development
#10
Chao Li, Yuhao Liu, Wen-Hui Sun, Yu Yu, Aiwu Dong
The phytohormone gibberellin (GA) plays essential roles in plant growth and development. Here, we report that OsINO80, a conserved ATP-dependent chromatin-remodeling factor in rice (Oryza sativa), functions in diverse biological processes and GA biosynthesis. OsINO80-knockdown mutants, derived from either T-DNA insertion or RNA interference, display typical GA-deficient phenotypes, including dwarfism, reduced cell length, late flowering, retarded seed germination and impaired reproductive development. Consistently, transcriptome analyses reveal that OsINO80 knockdown results in down-regulation by more than two-fold of over 1000 genes, including the GA biosynthesis genes CPS1 and GA3ox2, and the dwarf phenotype of OsINO80-knockdown mutants can be rescued by the application of exogenous GA3...
October 17, 2017: Journal of Integrative Plant Biology
https://www.readbyqxmd.com/read/29040558/constitutively-active-fgfr3-disrupts-primary-cilium-length-and-ift20-trafficking-in-various-chondrocyte-models-of-achondroplasia
#11
Ludovic Martin, Nabil Kaci, Valentin Estibals, Nicolas Goudin, Meriem Garfa-Traore, Catherine Benoist-Lasselin, Emilie Dambroise, Laurence Legeai-Mallet
FGFR3 (fibroblast growth factor receptor 3) gain-of-function mutations cause dwarfisms, including achondroplasia (ACH) and thanatophoric dysplasia (TD). The constitutive activation of FGFR3 disrupts the normal process of skeletal growth. Bone-growth anomalies have been identified in skeletal ciliopathies, in which primary cilia (PC) function is disrupted. In human ACH and TD, the impact of FGFR3 mutations on PC in growth plate cartilage remains unknown. Here we showed that in chondrocytes from human (ACH, TD) and mouse Fgfr3Y367C/+ cartilage, the constitutively-active FGFR3 perturbed PC length and the sorting and trafficking of IFT20 to the PC...
October 4, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29039754/the-nac-transcription-factor-gene-osy37-onac011-promotes-leaf-senescence-and-accelerates-heading-time-in-rice
#12
Yousra El Mannai, Kenta Akabane, Keiichiro Hiratsu, Namiko Satoh-Nagasawa, Hiroetsu Wabiko
Leaf senescence is an important physiological process involving the degradation of a number of metabolites and their remobilization to new reproductive and storage organs. NAC (NAM, ATAF, and CUC) transcription factors are reported as important regulators of the senescence process. Here, we describe the identification and functional characterization of the NAC transcription factor gene, OsY37 (Oryza sativa Yellow37, ONAC011) obtained from Oryza sativa cv. indica, and japonica. We created transgenic plants expressing the OsY37 gene under the control of a strong and constitutive CaMV35S promoter...
October 17, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29036220/defective-replication-initiation-results-in-locus-specific-chromosome-breakage-and-a-ribosomal-rna-deficiency-in-yeast
#13
Joseph C Sanchez, Elizabeth X Kwan, Thomas J Pohl, Haley M Amemiya, M K Raghuraman, Bonita J Brewer
A form of dwarfism known as Meier-Gorlin syndrome (MGS) is caused by recessive mutations in one of six different genes (ORC1, ORC4, ORC6, CDC6, CDT1, and MCM5). These genes encode components of the pre-replication complex, which assembles at origins of replication prior to S phase. Also, variants in two additional replication initiation genes have joined the list of causative mutations for MGS (Geminin and CDC45). The identity of the causative MGS genetic variants strongly suggests that some aspect of replication is amiss in MGS patients; however, little evidence has been obtained regarding what aspect of chromosome replication is faulty...
October 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29031714/dwarfism-and-insulin-resistance-in-male-offspring-caused-by-%C3%AE-1-adrenergic-antagonism-during-pregnancy
#14
Rebecca Oelkrug, Beate Herrmann, Cathleen Geissler, Lisbeth Harder, Christiane Koch, Hendrik Lehnert, Henrik Oster, Henriette Kirchner, Jens Mittag
OBJECTIVE: Maternal and environmental factors control the epigenetic fetal programming of the embryo, thereby defining the susceptibility for metabolic or endocrine disorders in the offspring. Pharmacological interventions required as a consequence of gestational problems, e.g. hypertension, can potentially interfere with correct fetal programming. As epigenetic alterations are usually only revealed later in life and not detected in studies focusing on early perinatal outcomes, little is known about the long-term epigenetic effects of gestational drug treatments...
October 2017: Molecular Metabolism
https://www.readbyqxmd.com/read/29017490/germline-mutation-within-col2a1-associated-with-lethal-chondrodysplasia-in-a-polled-holstein-family
#15
Sina Reinartz, Hartmut Mohwinkel, Christian Sürie, Maren Hellige, Karsten Feige, Deborah Eikelberg, Andreas Beineke, Julia Metzger, Ottmar Distl
BACKGROUND: The bulldog calf syndrome is a lethal form of the inherited congenital chondrodysplasias. Among the progeny of the polled Holstein bull Energy P cases of lethal chondrodysplasia were observed. Pedigrees of the cases and the frequency of 3/8 cases among the offspring of Energy P at our teaching and experimental farm Ruthe (LuFG Ruthe) supported the assumption of a germline mutation with a mosaic of normal and defective sperm. RESULTS: All three malformed calves were examined using necropsy, histopathology and computed tomography scanning...
October 10, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28983104/shp2-regulates-the-osteogenic-fate-of-growth-plate-hypertrophic-chondrocytes
#16
Lijun Wang, Jiahui Huang, Douglas C Moore, Chunlin Zuo, Qian Wu, Liqin Xie, Klaus von der Mark, Xin Yuan, Di Chen, Matthew L Warman, Michael G Ehrlich, Wentian Yang
Transdifferentiation of hypertrophic chondrocytes into bone-forming osteoblasts has been reported, yet the underlying molecular mechanism remains incompletely understood. SHP2 is an ubiquitously expressed cytoplasmic protein tyrosine phosphatase. SHP2 loss-of-function mutations in chondroid cells are linked to metachondromatosis in humans and mice, suggesting a crucial role for SHP2 in the skeleton. However, the specific role of SHP2 in skeletal cells has not been elucidated. To approach this question, we ablated SHP2 in collagen 2α1(Col2α1)-Cre- and collagen 10α1(Col10α1)-Cre-expressing cells, predominantly proliferating and hypertrophic chondrocytes, using "Cre-loxP"-mediated gene excision...
October 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28977598/rac1-dosage-is-crucial-for-normal-endochondral-bone-growth
#17
Dai Suzuki, Jason R Bush, Dawn-Marie Bryce, Ryutaro Kamijo, Frank Beier
Rac1, a member of the small Rho GTPase family, plays multiple cellular roles. Studies of mice conditionally lacking Rac1 have revealed essential roles for Rac1 in various tissues, including cartilage and limb mesenchyme, where Rac1 loss produces dwarfism and long bone shortening. To gain further insight into the role of Rac1 in skeletal development, we have used transgenic mouse lines to express a constitutively active (ca) Rac1 mutant protein in a Cre recombinase-dependent manner. Overexpression of caRac1 in limb bud mesenchyme or chondrocytes leads to reduced body weight and shorter bones compared with control mice...
October 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/28964968/dephosphorylation-is-the-mechanism-of-fibroblast-growth-factor-inhibition-of-guanylyl-cyclase-b
#18
Jerid W Robinson, Jeremy R Egbert, Julia Davydova, Hannes Schmidt, Laurinda A Jaffe, Lincoln R Potter
Activating mutations in fibroblast growth factor receptor 3 (FGFR3) and inactivating mutations of guanylyl cyclase-B (GC-B, also called NPRB or NPR2) cause dwarfism. FGF exposure inhibits GC-B activity in a chondrocyte cell line, but the mechanism of the inactivation is not known. Here, we report that FGF exposure causes dephosphorylation of GC-B in rat chondrosarcoma cells, which correlates with a rapid, potent and reversible inhibition of C-type natriuretic peptide-dependent activation of GC-B. Cells expressing a phosphomimetic mutant of GC-B that cannot be inactivated by dephosphorylation because it contains glutamate substitutions for all known phosphorylation sites showed no decrease in GC-B activity in response to FGF...
December 2017: Cellular Signalling
https://www.readbyqxmd.com/read/28961939/an-evolutionary-genomic-perspective-on-the-breeding-of-dwarf-chickens
#19
Ming-Shan Wang, Newton O Otecko, Sheng Wang, Dong-Dong Wu, Min-Min Yang, Yi-Long Xu, Robert W Murphy, Min-Sheng Peng, Ya-Ping Zhang
The evolutionary history for dwarfism in chickens remains an enigma. Herein, we explore the evolution of the Serama, the smallest breed of chicken. Leveraging comparative population genomics, analyses identify several genes that are potentially associated with the growth and development of bones and muscles. These genes, and in particular both POU1F1 and IGF1, are under strong positive selection. Three allopatric dwarf bantams (Serama, Yuanbao, and Daweishan) with different breeding-histories, form distinct clusters and exhibit unique population structures...
September 5, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28950429/the-role-of-ellis-van-creveld-2-evc2-in-mice-during-cranial-bone-development
#20
Edwin K Kwon, Ke'ale Louie, Anshul Kulkarni, Marilia Yatabe, Antonio Carlos de Oliveira Ruellas, Taylor N Snider, Yoshiyuki Mochida, Lucia H S Cevidanes, Yuji Mishina, Honghao Zhang
EvC syndrome is a type of autosomal-recessive chondrodysplasia. Previous case studies in patients suggest abnormal craniofacial development, in addition to dwarfism and tooth abnormalities. To investigate how craniofacial development is affected in EvC patients, surface models were generated from micro-CT scans of control mice, Evc2 global mutant mice and Evc2 neural crest-specific mutant mice. The anatomic landmarks were placed on the surface model to assess the morphological abnormalities in the Evc2 mutants...
September 26, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
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