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Hidetoshi Tsushima, Yuning J Tang, Vijitha Puviindran, Shu-Hsuan Claire Hsu, Puviindran Nadesan, Chunying Yu, Hongyuan Zhang, Anthony J Mirando, Matthew J Hilton, Benjamin A Alman
During enchondral ossification, mesenchymal cells express genes regulating the intracellular biosynthesis of cholesterol and lipids. Here we investigated conditional deletion of Scap or Insig1 and Insig2 (inhibits or activates intracellular biosynthesis respectively). Mesenchymal condensation and chondrogenesis was disrupted in mice lacking Scap in mesenchymal progenitors, while mice lacking the Insig genes in mesenchymal progenitors had short limbs, but normal chondrogenesis. Mice lacking Scap in chondrocytes showed severe dwarfism, with ectopic hypertrophic cells, while deletion of Insig genes in chondrocytes caused a mild dwarfism and shorting of the hypertrophic zone...
June 13, 2018: Development
Celia M Cantín, Pere Arús, Iban Eduardo
OBJECTIVE: Peach brachytic dwarfism determined by Dwarf gene (Dw) is an undesired trait segregating in some peach breeding programs. Recently, a single nucleotide polymorphism (SNP) mutation in the gibberellin insensitive dwarf 1 (GID1) peach gene causing brachytic dwarfism was described. In this research we wanted to validate this marker in an F2 population of the 'Nectavantop' peach cultivar (Nv) to include it as a marker assisted selection tool for peach breeding programs. RESULTS: The observed segregation of the trait was in agreement with that of a recessive gene, the individuals homozygous for the recessive allele (dwdw) presenting the dwarf genotype...
June 14, 2018: BMC Research Notes
Ghulam Murtaza, Adeel Khalid, Muhammad Armughan Ali, Arsalan Majeed Adam, Warisha Ikhlaq, Ayaz Ahmed
Lenz-Majewski Hyperostotic Dwarfism (LMHD) is an extremely rare congenital, sclerosing bone dysplasia that causes cranio-tubular hyperostosis, ectodermal dysplasia (cutis laxa and enamel hypoplasia), osseous dysgenesis of hands and feet with diaphyseal cortical thickening of tubular bones and intellectual disability. Only a few cases of this syndrome have been reported in the literature so far. We report another case of LMHD with cranio-tubular hyperostosis, cutis laxa, wide open anterior and posterior fontannels, hypertelorism and thickening of diaphysis of tubular bones in a six months old Pakistani female patient...
May 2018: JPMA. the Journal of the Pakistan Medical Association
Shuji Moriyama, Masahiko Hara, Yasushi Kaneko
BACKGROUND: Achondroplasia is an inherited disorder and the most common type of short-limbed dwarfism in human beings, affecting more than 250,000 individuals worldwide. To the best of our knowledge, no study has reported a correlation between achondroplasia and aortic dissection. Here, we report a rare case of acute type A aortic dissection repair in a patient with achondroplasia. CASE PRESENTATION: An 82-year-old Japanese female with achondroplasia was admitted to our hospital because of acute-onset severe chest pain migration to her back accompanied by numbness and pain in the right lower limb...
June 8, 2018: Surgical Case Reports
Tao Wang, Lei Liu, Xiaojing Wang, Lixiong Liang, Jinjun Yue, Lubin Li
Moso bamboo ( Phyllostachys edulis ) is one of the most important bamboo species in China and the third most important plant species for timber production. However, the dwarf variant of moso bamboo, P. edulis f. tubaeformis (shengyin bamboo), which has shortened internodes, is not well studied. We used anatomical, hormonal, and transcriptomic approaches to study internode shortening and shoot growth in dwarf shengyin and wild moso bamboo. Phenotypic and anatomical observations showed that dwarfing in shengyin bamboo is due to reduced internode length, and the culm fibers in shengyin bamboo are significantly shorter and thicker than in wild moso bamboo...
June 7, 2018: International Journal of Molecular Sciences
Jenna Kotak, Marina Saisana, Vasilis Gegas, Nikoletta Pechlivani, Athanasios Kaldis, Panagiotis Papoutsoglou, Athanasios Makris, Julia Burns, Ashley L Kendig, Minnah Sheikh, Cyrus E Kuschner, Gabrielle Whitney, Hanna Caiola, John H Doonan, Konstantinos E Vlachonasios, Elizabeth R McCain, Amy T Hark
The histone acetyltransferase GCN5 and associated transcriptional coactivator ADA2b are required to couple endoreduplication and trichome branching. Mutation of ADA2b also disrupts the relationship between ploidy and leaf cell size. Dynamic chromatin structure has been established as a general mechanism by which gene function is temporally and spatially regulated, but specific chromatin modifier function is less well understood. To address this question, we have investigated the role of the histone acetyltransferase GCN5 and the associated coactivator ADA2b in developmental events in Arabidopsis thaliana...
May 30, 2018: Planta
Yamini Krishnan, Alan J Grodzinsky
Hyaline cartilages, fibrocartilages and elastic cartilages play multiple roles in the human body including bearing loads in articular joints and intervertebral discs, providing joint lubrication, forming the external ears and nose, supporting the trachea, and forming the long bones during development and growth. The structure and organization of cartilage's extracellular matrix (ECM) are the primary determinants of normal function. Most diseases involving cartilage lead to dramatic changes in the ECM which can govern disease progression (e...
May 24, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
Konstantinos Markatos, Andreas F Mavrogenis, Marianna Karamanou, Georgios Androutsos
Pycnodysostosis or Maroteaux-Lamy syndrome is a genotypic bone disorder, with autosomal recessive inheritance, individualized by Lamy and Maroteaux in 1962. It is characterized by diffuse condensation of the skeleton with thickening of the cortex and narrowing of the medullary cavity. This condensation is reminiscent of the one observed in Albers-Schönberg disease, which differs essentially in dysmorphism of the skull (no closure of fontanelles, gaping sutures, hypoplasia of the lower jaw with open mandibular angle) and extremities (hypoplasia or osteolysis of the phalanges)...
May 24, 2018: European Journal of Orthopaedic Surgery & Traumatology: Orthopédie Traumatologie
Bora Lee, Janghyun Kim, Taekyeong An, Sangsoo Kim, Esha M Patel, Jacob Raber, Soo-Kyung Lee, Seunghee Lee, Jae W Lee
Despite critical roles of the hypothalamic arcuate neurons in controlling the growth and energy homeostasis, the gene regulatory network directing their development remains unclear. Here we report that the transcription factors Dlx1/2 and Otp coordinate the balanced generation of the two functionally related neurons in the hypothalamic arcuate nucleus, GHRH-neurons promoting the growth and AgRP-neurons controlling the feeding and energy expenditure. Dlx1/2-deficient mice show a loss-of-GHRH-neurons and an increase of AgRP-neurons, and consistently develop dwarfism and consume less energy...
May 23, 2018: Nature Communications
Paulo Passos, Agustín Scanferla, Paulo R Melo-Sampaio, Jorge Brito, Ana Almendariz
Body-size is significantly correlated with the number of vertebrae (pleomerism) in multiple vertebrate lineages, indicating that somitogenesis process is an important factor dictating evolutionary change associated to phyletic allometry and, consequently, species fitness and diversification. However, the role of the evolution of extreme body sizes (dwarfism and gigantism) remains elusive in snakes, mainly with respect to postnatal ontogeny in dietary preferences associated with evolution of gigantism in many lineages...
May 17, 2018: Anais da Academia Brasileira de Ciências
Solveig Schulz, Martin A Mensah, Heike de Vries, Rosemarie Fröber, Bernd Romeike, Uwe Schneider, Stephan Borte, Detlev Schindler, Karim Kentouche
Recently, variants in DONSON have been reported to cause different disorders of the microcephalic primordial dwarfism spectrum. Using whole-exome sequencing, we identified two novel, compound heterozygous DONSON variants in a pair of siblings, one of whom was previously diagnosed with Fanconi anemia. This occurred because the present cases exhibited clinical findings in addition to those of the microcephalic primordial dwarfism disorder, including severe limb malformations. These findings suggest that the DONSON and Fanconi anemia proteins could have supplementary roles in developmental processes as they have in the maintenance of genomic integrity, resulting in related disease phenotypes...
May 14, 2018: European Journal of Human Genetics: EJHG
Manal Nicolas-Jilwan, Moeenaldeen AlSayed
The mucopolysaccharidoses are a heterogeneous group of inherited lysosomal storage disorders, characterized by the accumulation of undegraded glycosaminoglycans in various organs, leading to tissue damage. Mucopolysaccharidoses include eight individual disorders (IS [Scheie syndrome], IH [Hurler syndrome], II, III, IV, VI, VII and IX). They have autosomal-recessive transmission with the exception of mucopolysaccharidosis II, which is X-linked. Each individual disorder has a wide spectrum of phenotypic variation, depending on the specific mutation, from very mild to very severe...
May 11, 2018: Pediatric Radiology
Shudai Lin, Congjun Li, Charles Li, Xiquan Zhang
Growth hormone (GH) promotes body growth by binding with two GH receptors (GHRs) at the cell surface. GHRs interact with Janus kinase, signal transducers, and transcription activators to stimulate metabolic effects and insulin-like growth factor (IGF) synthesis. However, process dysfunctions in the GH⁻GHR⁻IGF-1 axis cause animal dwarfism. If, during the GH process, GHR is not successfully recognized and/or bound, or GHR fails to transmit the GH signal to IGF-1, the GH dysfunction occurs. The goal of this review was to focus on the GHR mutations that lead to failures in the GH⁻GHR⁻IGF-1 signal transaction process in the dwarf phenotype...
May 10, 2018: International Journal of Molecular Sciences
Weibo Ren, Jihong Xie, Xiangyang Hou, Xiliang Li, Huiqin Guo, Ningning Hu, Lingqi Kong, Jize Zhang, Chun Chang, Zinian Wu
BACKGROUND: This study was designed to reveal potential molecular mechanisms of long-term overgrazing-induced dwarfism in sheepgrass (Leymus chinensis). METHODS: An electrospray ionisation mass spectrometry system was used to generate proteomic data of dwarf sheepgrass from a long-term overgrazed rangeland and normal sheepgrass from a long-term enclosed rangeland. Differentially expressed proteins (DEPs) between dwarf and normal sheepgrass were identified, after which their potential functions and interactions with each other were predicted...
May 8, 2018: BMC Plant Biology
Beata Zelazowska-Rutkowska, Marta Trusiak, Artur Bossowski, Bogdan Cylwik
BACKGROUND: Pituitary dwarfism (also known as short stature) is a medical condition in which the pituitary gland does not produce enough growth hormone (GH). To confirm the diagnosis of growth hormone deficiency the overnight profile of GH secretion and GH provocative tests are usually performed; however, due to wide GH fluctuations throughout the day and night and the invasiveness of stimulation tests, their clinical utility is limited. Therefore, screening for IGF-1 (insulin-like growth factor 1) and IGFBP-3 (insulin-like growth factor binding protein type 3) is proposed, suggesting that these tests provide a more accurate reflection of the mean plasma GH level, although the results of these tests are still problematic...
May 1, 2018: Clinical Laboratory
Ikuko Takahashi, Daiki Kondo, Chikako Oyama, Tamami Yano, Hiroaki Tamura, Atsuko Noguchi, Tsutomu Takahashi
Functionally activating mutations in fibroblast growth factor receptor 3 (FGFR3) can cause four types of autosomal dominant skeletal dysplasia with short-limbed dwarfism that include the mildest phenotype, hypochondroplasia (HCH). A novel mutation (c.805A>T, p.S269C) was identified in a Japanese infant with HCH through direct sequencing of all FGFR3 exons and exon/intron boundaries. This mutation creates an additional cysteine residue in the extracellular region of FGFR3 that results in the functional activation of FGFR3...
2018: Human Genome Variation
Jaewook Chung, Xia Zhang, Bruce Collins, Renan B Sper, Katherine Gleason, Sean Simpson, Sehwon Koh, Jeffrey Sommer, William L Flowers, Robert M Petters, Jorge A Piedrahita
Expression of HMGA2 is strongly associated with body size and growth in mice and humans. In mice, inactivation of one or both alleles of Hmga2 results in body-size reductions of 20% and 60%, respectively. In humans, microdeletions involving the HMGA2 locus result in short stature, suggesting the function of the HMGA2 protein is conserved among mammals. To test this hypothesis, we generated HMGA2-deficient pigs via gene editing and somatic cell nuclear transfer (SCNT). Examination of growth parameters revealed that HMGA2 -/+ male and female pigs were on average 20% lighter and smaller than HMGA2 +/+ matched controls ( P < 0...
May 7, 2018: Proceedings of the National Academy of Sciences of the United States of America
Samira Samarfard, Nicolas E Bejerman, Ralf G Dietzgen
In 2010, a novel cytorhabdovirus named alfalfa dwarf virus (ADV) was detected for the first time in lucerne crops in Argentina showing dwarfism, in mixed infections with several other viruses. ADV appears to be endemic to Argentina and has not been reported elsewhere. In this study, we have investigated the genetic variability of ADV based on the complete nucleoprotein (N) gene of 13 isolates from different lucerne-growing regions in Argentina. Phylogenetic and sequence identity analyses showed that all ADV isolates are closely related and have not diverged more than 1% in the N gene despite geographical separation...
May 5, 2018: Virus Genes
Daniel Berman, Kelly Rogers, Kevin Bonner, Justin Griffin
Surgical repair of articular cartilage defects in the knee currently utilizes surgical algorithms based on absolute defect size. These algorithms, which have not been validated, are currently utilized not only by surgeons but also by insurance carriers for justification of reimbursement policy. However, current algorithms do not account for morphological differences between individual patients and defect size relative to condylar dimension. We hypothesized that a significant difference in relative defect size compared with condylar dimension may exist between individuals...
May 4, 2018: Journal of Knee Surgery
Jian Qiu, Wenwu Cai, Chang Shu, Ming Li, Qinggen Xiong, Quanming Li, Xin Li
RATIONALE: To apply thoracic endovascular aortic repair (TEVAR) to treat dwarfism complicated with Stanford B aortic dissection. PATIENT CONCERNS: In this report, we presented a 63-year-old male patient of dwarfism complicated with Stanford B aortic dissection successfully treated with TEVAR. DIAGNOSES: He was diagnosed with dwarfism complicated with Stanford B aortic dissection. INTERVENTIONS: After conservative treatment, the male patient underwent TEVAR at 1 week after hospitalization...
April 2018: Medicine (Baltimore)
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