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https://www.readbyqxmd.com/read/28644737/circulatory-cnp-rescues-craniofacial-hypoplasia-in-achondroplasia
#1
S Yamanaka, Kazumasa Nakao, N Koyama, Y Isobe, Y Ueda, Y Kanai, E Kondo, T Fujii, M Miura, A Yasoda, Kazuwa Nakao, K Bessho
Achondroplasia is the most common genetic form of human dwarfism, characterized by midfacial hypoplasia resulting in occlusal abnormality and foramen magnum stenosis, leading to serious neurologic complications and hydrocephalus. Currently, surgery is the only way to manage jaw deformity, neurologic complications, and hydrocephalus in patients with achondroplasia. We previously showed that C-type natriuretic peptide (CNP) is a potent stimulator of endochondral bone growth of long bones and vertebrae and is also a potent stimulator in the craniofacial region, which is crucial for midfacial skeletogenesis...
June 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28634271/development-of-the-thyroid-gland
#2
REVIEW
Mikael Nilsson, Henrik Fagman
Thyroid hormones are crucial for organismal development and homeostasis. In humans, untreated congenital hypothyroidism due to thyroid agenesis inevitably leads to cretinism, which comprises irreversible brain dysfunction and dwarfism. Elucidating how the thyroid gland - the only source of thyroid hormones in the body - develops is thus key for understanding and treating thyroid dysgenesis, and for generating thyroid cells in vitro that might be used for cell-based therapies. Here, we review the principal mechanisms involved in thyroid organogenesis and functional differentiation, highlighting how the thyroid forerunner evolved from the endostyle in protochordates to the endocrine gland found in vertebrates...
June 15, 2017: Development
https://www.readbyqxmd.com/read/28628670/combining-ability-heritability-and-genotypic-relations-of-different-physiological-traits-in-cacao-hybrids
#3
Allan Silva Pereira, Alex-Alan Furtado de Almeida, Márcia Christina da Silva Branco, Marcio Gilberto Cardoso Costa, Dario Ahnert
Selecting parents and evaluating progenies is a very important step in breeding programs and involves approaches such as understanding the initial stages of growth and characterizing the variability among genotypes for different parameters, such as physiological, growth, biomass partitioning and nutrient translocation to the aerial part. In these cases, facilitating tools can be used to understand the involved gene dynamics, such as diallel crosses and genetic and phenotypic correlations. Our main hypothesis is that the contrasting phenotypes of these parental genotypes of cocoa used are due to genetic factors, and progenies derived from crosses of these parental genotypes are useful for breeding programs related to plant architecture, physiological parameters and translocation of mineral nutrients...
2017: PloS One
https://www.readbyqxmd.com/read/28619152/the-newly-emerging-duck-origin-goose-parvovirus-in-china-exhibits-a-wide-range-of-pathogenicity-to-main-domesticated-waterfowl
#4
Shifeng Xiao, Shilong Chen, Xiaoxia Cheng, Fengqiang Lin, Shao Wang, Xiaoli Zhu, Bo Yu, Meiqing Huang, Jinxiang Wang, Nanyang Wu, Min Zheng, Shaoying Chen, Fusong Yu
Short beak and dwarfism syndrome virus (SBDSV) is a newly emerging distinct duck-origin goose parvovirus that belongs to the genus Dependovirus. Our previous studies have found that SBDSV was highly pathogenic to Cherry Valley ducklings and mule ducklings. However, little is known about its pathogenicity to other waterfowls. In the present study, the pathogenicity of SBDSV was evaluated in domesticated waterfowl including Muscovy ducklings, Sheldrake ducklings and domestic goslings. All experimentally infected birds exhibited remarkable growth retardation, anorexia and diarrhea similar to naturally infected birds...
May 2017: Veterinary Microbiology
https://www.readbyqxmd.com/read/28617965/further-delineation-of-the-phenotype-caused-by-biallelic-variants-in-the-wdr4-gene
#5
Aurélien Trimouille, Eulalie Lasseaux, Pascal Barat, Caroline Deiller, Séverine Drunat, Caroline Rooryck, Benoît Arveiler, Didier Lacombe
Microcephalic primordial dwarfisms are a group of rare Mendelian disorders characterized by severe growth retardation and microcephaly. The molecular basis is heterogeneous, with disease-causing genes implicated in different cellular functions. Recently, 2 patients were reported with the same homozygous variant in the WDR4 gene, coding for an enzyme responsible for the m(7) G46 post transcriptional modification of tRNA. We report here two sisters harboring compound heterozygous variants of WDR4. Their phenotype differs from that of the first two described patients: they both have a severe microcephaly but only one of the two sisters had a head circumference at birth below -2 SD, their intellectual deficiency is less severe, and they have a GH deficiency and a partial hypogonadotropic hypogonadotropism...
June 15, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28603533/transcriptome-analysis-reveals-differential-gene-expression-and-a-possible-role-of-gibberellins-in-a-shade-tolerant-mutant-of-perennial-ryegrass
#6
Wei Li, Lorenzo Katin-Grazzini, Xianbin Gu, Xiaojing Wang, Rania El-Tanbouly, Huseyin Yer, Chandra Thammina, John Inguagiato, Karl Guillard, Richard J McAvoy, Jill Wegrzyn, Tingting Gu, Yi Li
The molecular basis behind shade tolerance in plants is not fully understood. Previously, we have shown that a connection may exist between shade tolerance and dwarfism, however, the mechanism connecting these phenotypes is not well understood. In order to clarify this connection, we analyzed the transcriptome of a previously identified shade-tolerant mutant of perennial ryegrass (Lolium perenne L.) called shadow-1. shadow-1 mutant plants are dwarf, and are significantly tolerant to shade in a number of environments compared to wild-type controls...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28600781/consequences-of-centrosome-dysfunction-during-brain-development
#7
Maddalena Nano, Renata Basto
Development requires cell proliferation, differentiation and spatial organization of daughter cells to occur in a highly controlled manner. The mode of cell division, the extent of proliferation and the spatial distribution of mitosis allow the formation of tissues of the right size and with the correct structural organization. All these aspects depend on cell cycle duration, correct chromosome segregation and spindle orientation. The centrosome, which is the main microtubule-organizing centre (MTOC) of animal cells, contributes to all these processes...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28596394/complete-genome-sequence-of-a-novel-goose-parvovirus-isolated-in-sichuan-province-china-in-2016
#8
Zhiqi Ge, Shun Chen, Mingshu Wang, Anchun Cheng
Here, we report the complete genome sequence of the novel goose parvovirus (NGPV) strain SC16 (NGPV-SC16), which was isolated from Sichuan Province, China, in 2016 and is a cause of the newly emerging beak atrophy and dwarfism syndrome in ducklings and a moderately pathogenic GPV-related parvovirus. The whole genome of strain NGPV-SC16 was 5,109 nucleotides long.
June 8, 2017: Genome Announcements
https://www.readbyqxmd.com/read/28591843/the-first-evidence-of-nanism-in-ixodes-ixodes-scapularis-acari-ixodidae-found-parasitizing-a-human-host
#9
John Soghigian, Gale E Ridge, Kirby C Stafford, Goudarz Molaei
Ixodes scapularis Say 1821, the primary vector of several human pathogens in the northeastern and upper Midwestern United States, has considerable genetic and morphological variation throughout its range. Recently, developmental or teratological abnormalities have been observed in this species for the first time, further complicating morphological identification. Here, we report the first evidence of nanism (dwarfism) in I. scapularis, found parasitizing a human host. We used molecular methods and scanning electron microscopy to identify the specimen...
June 7, 2017: Journal of Medical Entomology
https://www.readbyqxmd.com/read/28578018/rice-gene-sdl-rnrs1-encoding-the-small-subunit-of-ribonucleotide-reductase-is-required-for-chlorophyll-synthesis-and-plant-growth-development
#10
Ran Qin, Dongdong Zeng, Rong Liang, Chengcong Yang, Delara Akhter, Alamin Md, Xiaoli Jin, Chunhai Shi
A new mutant named sdl (stripe and drooping leaf) was characterized from indica cultivar Zhenong 34 by ethylmethane sulfonate (EMS) mutagenesis. The mutant sdl exhibited development defects including stripe and drooping leaf, dwarfism and deformed floral organs. The gene SDL was found allelic to RNRS1 by map-based cloning, which was homologous to Arabidopsis TSO2 encoding the small subunit of ribonucleotide reductase. The gDNA sequencing results of sdl in mutant consistently showed that there was a repetitive sequence insertion of 138-bp at the 475th bp in the exon...
May 31, 2017: Gene
https://www.readbyqxmd.com/read/28576543/pycnodysostosis-at-otorhinolaryngology
#11
Tekin Baglam, Adem Binnetoglu, Muhammet Fatih Topuz, Nilay Baş Ikizoglu, Refika Ersu, Serap Turan, Murat Sarı
AIM: Pycnodysostosis is a rare autosomal, recessive, skeletal dysplasia caused by a mutation in the cathepsin k gene. Pycnodysostosis is characterized by short stature, characteristic facial appearance (delayed closure of fontanelles and cranial sutures, mandibular hypoplasia and angle disorder, blue sclera), and acroosteolysis of the distal phalanges. Our aim was to describe the otorhinolaryngologic findings, differential diagnoses, various treatment options, and followup in eight cases of pycnodysostosis...
April 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28574161/osidd2-a-zinc-finger-and-indeterminate-domain-protein-regulates-secondary-cell-wall-formation-fa
#12
Peng Huang, Hideki Yoshida, Kenji Yano, Shunsuke Kinoshita, Kyosuke Kawai, Eriko Koketsu, Masako Hattori, Sayaka Takehara, Ji Huang, Ko Hirano, Reynante Lacsamana Ordonio, Makoto Matsuoka, Miyako Ueguchi-Tanaka
Previously, we found 123 transcription factors (TFs) as candidate regulators of secondary cell wall (SCW) formation in rice by using phylogenetic and co-expression network analyses. Among them, we examined in this work the role of OsIDD2, a zinc finger and indeterminate domain (IDD) family TF. Its overexpressors showed dwarfism, fragile leaves, and decreased lignin content, which are typical phenotypes of plants defective in SCW formation, whereas its knockout plants showed slightly increased lignin content...
June 2, 2017: Journal of Integrative Plant Biology
https://www.readbyqxmd.com/read/28570666/loose-panicle1-encoding-a-novel-wrky-transcription-factor-regulates-panicle-development-stem-elongation-and-seed-size-in-foxtail-millet-setaria-italica-l-p-beauv
#13
Jishan Xiang, Sha Tang, Hui Zhi, Guanqing Jia, Huajun Wang, Xianmin Diao
Panicle development is an important agronomic trait that aids in determining crop productivity. Foxtail millet and its wild ancestor green foxtail have recently been used as model systems to dissect gene functions. Here, we characterized a recessive mutant of foxtail millet, loose-panicle 1 (lp1), which showed pleiotropic phenotypes, such as a lax primary branching pattern, aberrant branch morphology, semi-dwarfism, and enlarged seed size. The loose panicle phenotype was attributed to increased panicle lengths and decreased primary branch numbers...
2017: PloS One
https://www.readbyqxmd.com/read/28557176/genetic-variations-at-the-human-growth-hormone-receptor-ghr-gene-locus-are-associated-with-idiopathic-short-stature
#14
Christel Dias, Mara Giordano, Rosalie Frechette, Simonetta Bellone, Constantin Polychronakos, Laurent Legault, Cheri L Deal, Cynthia Gates Goodyer
GH plays an essential role in the growing child by binding to the growth hormone receptor (GHR) on target cells and regulating multiple growth promoting and metabolic effects. Mutations in the GHR gene coding regions result in GH insensitivity (dwarfism) due to a dysfunctional receptor protein. However, children with idiopathic short stature (ISS) show growth impairment without GH or GHR defects. We hypothesized that decreased expression of the GHR gene may be involved. To test this, we investigated whether common genetic variants (microsatellites, SNPs) in regulatory regions of the GHR gene region were associated with the ISS phenotype...
May 29, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28528685/igf-i-deficiency-longevity-and-cancer-protection-of-patients-with-laron-syndrome
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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-5α,8α-20-hydroxyecdysone (α-DHECD), and compared their activities with that of brassinolide (BL), the most potent BR. In rice, DHECD and α-DHECD enhanced the degree of lamina inclination, as do BRs...
May 4, 2017: Journal of Steroid Biochemistry and Molecular Biology
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