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Chondrodysplasia

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https://www.readbyqxmd.com/read/28642850/transcriptional-network-controlling-endochondral-ossification
#1
REVIEW
Kenji Hata, Yoshifumi Takahata, Tomohiko Murakami, Riko Nishimura
Endochondral ossification is the fundamental process of skeletal development in vertebrates. Chondrocytes undergo sequential steps of differentiation, including mesenchymal condensation, proliferation, hypertrophy, and mineralization. These steps, which are required for the morphological and functional changes in differentiating chondrocytes, are strictly regulated by a complex transcriptional network. Biochemical and mice genetic studies identified chondrogenic transcription factors critical for endochondral ossification...
May 2017: Journal of Bone Metabolism
https://www.readbyqxmd.com/read/28614284/cervical-spine-deformities-in-children-with-rhizomelic-chondrodysplasia-punctata
#2
Oussama Abousamra, Vinay Kandula, Angela L Duker, Kenneth J Rogers, Michael B Bober, William G Mackenzie
BACKGROUND: Cervical spine deformity in rhizomelic chondrodysplasia punctata (RCDP) has been described with different findings reported in the literature. However, available literature provides limited data from a few cases with magnetic resonance imaging (MRI) of the cervical spine. Our report describes the MRI findings in a group of children with RCDP, aiming to reach a better understanding of this pathology. METHODS: An Institutional Review Board-approved RCDP Registry was created at our institution with the goal of identifying pertinent medical issues over the lifespan of individuals with RCDP...
June 13, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28605393/drosophila-courtship-conditioning-as-a-measure-of-learning-and-memory
#3
Tom S Koemans, Cornelia Oppitz, Rogier A T Donders, Hans van Bokhoven, Annette Schenck, Krystyna Keleman, Jamie M Kramer
Many insights into the molecular mechanisms underlying learning and memory have been elucidated through the use of simple behavioral assays in model organisms such as the fruit fly, Drosophila melanogaster. Drosophila is useful for understanding the basic neurobiology underlying cognitive deficits resulting from mutations in genes associated with human cognitive disorders, such as intellectual disability (ID) and autism. This work describes a methodology for testing learning and memory using a classic paradigm in Drosophila known as courtship conditioning...
June 5, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28583899/statins-do-not-inhibit-the-fgfr-signaling-in-chondrocytes
#4
B Fafilek, M Hampl, N Ricankova, I Vesela, L Balek, M Kunova Bosakova, I Gudernova, M Varecha, M Buchtova, P Krejci
OBJECTIVE: Statins are widely used drugs for cholesterol lowering, which were recently found to counteract the effects of aberrant fibroblast growth factor receptor (FGFR3) signaling in cell and animal models of FGFR3-related chondrodysplasia. This opened an intriguing therapeutic possibility for human dwarfing conditions caused by gain-of-function mutations in FGFR3, although the mechanism of statin action on FGFR3 remains unclear. Here, we determine the effect of statins on FGFR signaling in chondrocytes...
June 3, 2017: Osteoarthritis and Cartilage
https://www.readbyqxmd.com/read/28566232/identification-and-diagnostic-value-of-phytanoyl-and-pristanoyl-carnitine-in-plasma-from-patients-with-peroxisomal-disorders
#5
Katharina Herzog, Henk van Lenthe, Ronald J A Wanders, Frédéric M Vaz, Hans R Waterham, Sacha Ferdinandusse
Phytanic acid is a branched-chain fatty acid, the level of which is elevated in patients with a variety of peroxisomal disorders, including Refsum disease, and Rhizomelic chondrodysplasia punctata type 1 and 5. Elevated levels of both phytanic and pristanic acid are found in patients with Zellweger Spectrum Disorders, and pristanic acid is elevated in patients with α-methylacyl-CoA racemase deficiency. For the diagnosis of peroxisomal disorders, a variety of metabolites can be measured in blood samples from suspected patients, including very long-chain fatty acids, phytanic and pristanic acid...
May 6, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28555889/reduced-muscle-strength-in-ether-lipid-deficient-mice-is-accompanied-by-altered-development-and-function-of-the-neuromuscular-junction
#6
Fabian Dorninger, Ruth Herbst, Bojana Kravic, Bahar Z Camurdanoglu, Igor Macinkovic, Gerhard Zeitler, Sonja Forss-Petter, Siegfried Strack, Muzamil Majid Khan, Hans R Waterham, Rüdiger Rudolf, Said Hashemolhosseini, Johannes Berger
Inherited deficiency in ether lipids, a subgroup of phospholipids whose biosynthesis needs peroxisomes, causes the fatal human disorder rhizomelic chondrodysplasia punctata. The exact roles of ether lipids in the mammalian organism and, therefore, the molecular mechanisms underlying the disease are still largely enigmatic. Here, we used the glyceronephosphate O-acyltransferase knockout (Gnpat KO) mouse to study the consequences of complete inactivation of ether lipid biosynthesis and documented substantial deficits in motor performance and muscle strength of these mice...
May 29, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28552356/canine-brachycephaly-is-associated-with-a-retrotransposon-mediated-missplicing-of-smoc2
#7
Thomas W Marchant, Edward J Johnson, Lynn McTeir, Craig I Johnson, Adam Gow, Tiziana Liuti, Dana Kuehn, Karen Svenson, Mairead L Bermingham, Michaela Drögemüller, Marc Nussbaumer, Megan G Davey, David J Argyle, Roger M Powell, Sérgio Guilherme, Johann Lang, Gert Ter Haar, Tosso Leeb, Tobias Schwarz, Richard J Mellanby, Dylan N Clements, Jeffrey J Schoenebeck
In morphological terms, "form" is used to describe an object's shape and size. In dogs, facial form is stunningly diverse. Facial retrusion, the proximodistal shortening of the snout and widening of the hard palate is common to brachycephalic dogs and is a welfare concern, as the incidence of respiratory distress and ocular trauma observed in this class of dogs is highly correlated with their skull form. Progress to identify the molecular underpinnings of facial retrusion is limited to association of a missense mutation in BMP3 among small brachycephalic dogs...
June 5, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28504055/severe-generalised-chondrodysplasia-in-miniature-cattle-breeds
#8
K E Dittmer, K G Thompson, T Hogan
No abstract text is available yet for this article.
May 25, 2017: New Zealand Veterinary Journal
https://www.readbyqxmd.com/read/28440393/identification-of-key-genes-associated-with-schmid-type-metaphyseal-chondrodysplasia-based-on-microarray-data
#9
Bing Wang, Li He, Wusheng Miao, Ge Wu, Hai Jiang, Yongtao Wu, Jining Qu, Min Li
This study aimed to gain a better understanding of the molecular circuitry of Schmid-type metaphyseal chondrodysplasia (SMCD), and to identify more potential genes associated with the pathogenesis of SMCD. Microarray data from GSE72261 were downloaded from the NCBI GEO database, including collagen X p.Asn617Lys knock-in mutation (ColXN617K), ablated XBP1 activity (Xbp1CartΔEx2), compound mutant (C/X), and wild-type (WT) specimens. Differentially expressed genes (DEGs) were screened in Xbp1 vs. WT, Col vs...
June 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28396763/neonatal-mucolipidosis-type-ii-alpha-beta-due-to-compound-heterozygosity-for-a-known-and-novel-gnptab-mutation-and-a-concomitant-heterozygous-change-in-serpinf1-inherited-from-the-mother
#10
Kirsten A Wood, Regina M Zambrano, Bradley J Cheek, Christopher Arcement, Marie Haymon, Jessica Steinkampf, Srirangan Sampath, James C Hyland, Yves Lacassie
We report on a newborn with IUGR, rhizomelic dwarfism, and suspected chondrodysplasia punctata. At birth, OI was suspected; however, a skeletal survey suggested ML II alpha/beta. Sequencing revealed compound heterozygosity for a reported pathogenic and novel but expected pathogenic GNPTAB variant. Molecular testing for autosomal recessive OI identified a SERPINF1 variant.
April 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28338574/rigid-occipitocervical-instrumented-fusion-for-atlantoaxial-instability-in-an-18-month-old-toddler-with-brachytelephalangic-chondrodysplasia-punctata-a-case-report
#11
Hiroki Oba, Jun Takahashi, Kyoko Takano, Yuji Inaba, Mitsuo Motobayashi, Gen Nishimura, Shugo Kuraishi, Masayuki Shimizu, Shota Ikegami, Toshimasa Futatsugi, Masashi Uehara, Tomoki Kosho, Hiroyuki Kato, Koki Uno
STUDY DESIGN: Case report OBJECTIVE.: We report here on an 18-month-old boy with brachytelephalangic chondrodysplasia punctata (BCDP), whose atlantoaxial instability was successfully managed with occipitocervical instrumented fusion (OCF) using screw and rod instrumentations. SUMMARY OF BACKGROUND DATA: Recently, there have been a number of reports on BCDP with early onset of cervical myelopathy. Surgical OCF is a vital intervention to salvage affected individuals from the life-threatening morbidity...
March 23, 2017: Spine
https://www.readbyqxmd.com/read/28335520/endoplasmic-reticulum-stress-and-unfolded-protein-response-in-cartilage-pathophysiology-contributing-factors-to-apoptosis-and-osteoarthritis
#12
REVIEW
Alexandria Hughes, Alexandra E Oxford, Ken Tawara, Cheryl L Jorcyk, Julia Thom Oxford
Chondrocytes of the growth plate undergo apoptosis during the process of endochondral ossification, as well as during the progression of osteoarthritis. Although the regulation of this process is not completely understood, alterations in the precisely orchestrated programmed cell death during development can have catastrophic results, as exemplified by several chondrodystrophies which are frequently accompanied by early onset osteoarthritis. Understanding the mechanisms that underlie chondrocyte apoptosis during endochondral ossification in the growth plate has the potential to impact the development of therapeutic applications for chondrodystrophies and associated early onset osteoarthritis...
March 20, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28332779/intrafamilial-phenotypic-variability-in-a-polish-family-with-sensenbrenner-syndrome-and-biallelic-wdr35-mutations
#13
Joanna Walczak-Sztulpa, Anna Wawrocka, Agata Sobierajewicz, Lukasz Kuszel, Jan Zawadzki, Ryszard Grenda, Anna Swiader-Lesniak, Beata Kocyla-Karczmarewicz, Anna Wnuk, Anna Latos-Bielenska, Krystyna H Chrzanowska
Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy. Cranioectodermal dysplasia is characterized by craniofacial, skeletal, and ectodermal abnormalities. About 50 patients have been described to date. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disorder. Mutations in five genes: IFT122, WDR35, IFT43, WDR19, and IFT52 have been associated with CED. All known genes encode proteins that are part of the intraflagellar transport complex, which plays an important role in the assembly and maintenance of cilia...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28241124/skull-base-and-cervical-spine-involvement-in-jansen-syndrome-case-report
#14
Rabia Khan, Peter Oakes, Christian Fisahn, Brittni Burgess, Kristina M Kirkpatrick, Rod J Oskouian, R Shane Tubbs, Jeffrey P Blount
INTRODUCTION: Metaphyseal chondrodysplasia, Jansen type (JMD), is a rare form of endochondral ossification resulting in short limbs and dwarfism. CASE REPORT: A child presented with JMD and was found to have involvement of the cervical spine. Conservative treatment was given to the patient who at the long-term follow-up continues to have no neurological findings or cervical spine instability. CONCLUSIONS: To our knowledge, this case represents the first report of involvement of the superior cervical spine in a patient with JMD...
2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28229453/chondrodysplasia-with-multiple-dislocations-comprehensive-study-of-a-series-of-30-cases
#15
E Ranza, C Huber, N Levin, G Baujat, C Bole-Feysot, P Nitschke, C Masson, Y Alanay, L Al-Gazali, P Bitoun, O Boute, P Campeau, C Coubes, M McEntagart, N Elcioglu, L Faivre, A Gezdirici, D Johnson, E Mihci, B G Nur, L Perrin, C Quelin, P Terhal, B Tuysuz, V Cormier-Daire
The group of chondrodysplasia with multiple dislocations includes several entities, characterized by short stature, dislocation of large joints, hand and/or vertebral anomalies. Other features, such as epiphyseal or metaphyseal changes, cleft palate, intellectual disability are also often part of the phenotype. In addition, several conditions with overlapping features are related to this group and broaden the spectrum. The majority of these disorders have been linked to pathogenic variants in genes encoding proteins implicated in the synthesis or sulfation of proteoglycans (PG)...
October 13, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/28210640/muscle-weakness-a-misleading-presentation-in-children-with-distinctive-syndromic-entities-clinical-case-reports
#16
Ali Al Kaissi, Sergey Ryabykh, Polina Ochirova, Vladimir Kenis, Jochen G Hofstätter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
Marked ligamentous hyperlaxity and muscle weakness/wasting associated with awkward gait are the main deficits confused with the diagnosis of myopathy. Seven children (6 boys and 1 girl with an average age of 8 years) were referred to our department because of diverse forms of skeletal abnormalities. No definitive diagnosis was made, and all underwent a series of sophisticated investigations in other institutes in favor of myopathy. We applied our methodology through the clinical and radiographic phenotypes followed by targeted genotypic confirmation...
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28109478/chondrodysplasia-punctata-presenting-with-tracheal-obstruction
#17
Claudia Schweiger, Michel N Nassar, Debora Goebel, Michael J Rutter
Chondrodysplasia punctata is a group of congenital bone and cartilage disorders characterized by erratic calcification during development. Laryngeal and tracheal calcification and subsequent stenosis, while being reported in several cases of chondrodysplasia punctata, are not frequent findings and there are no proposed management techniques. We describe here a case of an infant with chondrodysplasia punctata associated to tracheal stenosis that was successfully treated with balloon dilation, and with long term follow-up...
February 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28094436/cartilage-hair-hypoplasia-with-normal-height-in-childhood-four-patients-with-a-unique-genotype
#18
Paula Klemetti, Helena Valta, Svetlana Kostjukovits, Mervi Taskinen, Sanna Toiviainen-Salo, Outi Mäkitie
The manifestations of cartilage-hair hypoplasia (CHH), a metaphyseal chondrodysplasia caused by RMRP mutations, include short stature, hypoplastic hair, immunodeficiency and increased risk of malignancies. Clinical features show significant variability. We report a patient with normal height until age 12.5 years (-1.6 SDS at 11 years) who was diagnosed with CHH at 14 years. RMRP sequencing revealed compound heterozygosity for g.70A>G mutation and a 10-nucleotide duplication at position -13 (TACTCTGTGA)...
January 17, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/27992319/therapeutics-targeting-fgf-signaling-network-in-human-diseases
#19
REVIEW
Masaru Katoh
Fibroblast growth factor (FGF) signaling through its receptors, FGFR1, FGFR2, FGFR3, or FGFR4, regulates cell fate, angiogenesis, immunity, and metabolism. Dysregulated FGF signaling causes human diseases, such as breast cancer, chondrodysplasia, gastric cancer, lung cancer, and X-linked hypophosphatemic rickets. Recombinant FGFs are pro-FGF signaling therapeutics for tissue and/or wound repair, whereas FGF analogs and gene therapy are under development for the treatment of cardiovascular disease, diabetes, and osteoarthritis...
December 2016: Trends in Pharmacological Sciences
https://www.readbyqxmd.com/read/27987249/achondroplasia-development-pathogenesis-and-therapy
#20
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...
April 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
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