keyword
https://read.qxmd.com/read/28583899/statins-do-not-inhibit-the-fgfr-signaling-in-chondrocytes
#181
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...
September 2017: Osteoarthritis and Cartilage
https://read.qxmd.com/read/28566232/identification-and-diagnostic-value-of-phytanoyl-and-pristanoyl-carnitine-in-plasma-from-patients-with-peroxisomal-disorders
#182
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...
July 2017: Molecular Genetics and Metabolism
https://read.qxmd.com/read/28555889/reduced-muscle-strength-in-ether-lipid-deficient-mice-is-accompanied-by-altered-development-and-function-of-the-neuromuscular-junction
#183
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 glyceronephosphate O-acyltransferase knockout (Gnpat KO) mice to study the consequences of complete inactivation of ether lipid biosynthesis and documented substantial deficits in motor performance and muscle strength of these mice...
December 2017: Journal of Neurochemistry
https://read.qxmd.com/read/28552356/canine-brachycephaly-is-associated-with-a-retrotransposon-mediated-missplicing-of-smoc2
#184
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://read.qxmd.com/read/28504055/severe-generalised-chondrodysplasia-in-miniature-cattle-breeds
#185
K E Dittmer, K G Thompson, T Hogan
No abstract text is available yet for this article.
September 2017: New Zealand Veterinary Journal
https://read.qxmd.com/read/28440393/identification-of-key-genes-associated-with-schmid-type-metaphyseal-chondrodysplasia-based-on-microarray-data
#186
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://read.qxmd.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
#187
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://read.qxmd.com/read/28338574/rigid-occipitocervical-instrumented-fusion-for-atlantoaxial-instability-in-an-18-month-old-toddler-with-brachytelephalangic-chondrodysplasia-punctata-a-case-report
#188
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...
December 1, 2017: Spine
https://read.qxmd.com/read/28335520/endoplasmic-reticulum-stress-and-unfolded-protein-response-in-cartilage-pathophysiology-contributing-factors-to-apoptosis-and-osteoarthritis
#189
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://read.qxmd.com/read/28332779/intrafamilial-phenotypic-variability-in-a-polish-family-with-sensenbrenner-syndrome-and-biallelic-wdr35-mutations
#190
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://read.qxmd.com/read/28241124/skull-base-and-cervical-spine-involvement-in-jansen-syndrome-case-report
#191
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://read.qxmd.com/read/28229453/chondrodysplasia-with-multiple-dislocations-comprehensive-study-of-a-series-of-30-cases
#192
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)...
June 2017: Clinical Genetics
https://read.qxmd.com/read/28210640/muscle-weakness-a-misleading-presentation-in-children-with-distinctive-syndromic-entities-clinical-case-reports
#193
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://read.qxmd.com/read/28109478/chondrodysplasia-punctata-presenting-with-tracheal-obstruction
#194
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://read.qxmd.com/read/28094436/cartilage-hair-hypoplasia-with-normal-height-in-childhood-4-patients-with-a-unique-genotype
#195
P Klemetti, H Valta, S Kostjukovits, M Taskinen, S Toiviainen-Salo, O 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)...
August 2017: Clinical Genetics
https://read.qxmd.com/read/27992319/therapeutics-targeting-fgf-signaling-network-in-human-diseases
#196
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://read.qxmd.com/read/27987249/achondroplasia-development-pathogenesis-and-therapy
#197
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
https://read.qxmd.com/read/27986801/decreased-telomere-length-in-children-with-cartilage-hair-hypoplasia
#198
Svetlana Kostjukovits, Sofie Degerman, Minna Pekkinen, Paula Klemetti, Mattias Landfors, Göran Roos, Mervi Taskinen, Outi Mäkitie
BACKGROUND: Cartilage-hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia caused by RMRP (RNA component of mitochondrial RNA processing endoribonuclease) gene mutations. Manifestations include short stature, variable immunodeficiency, anaemia and increased risk of malignancies, all of which have been described also in telomere biology disorders. RMRP interacts with the telomerase RT (TERT) subunit, but the influence of RMRP mutations on telomere length is unknown. We measured relative telomere length (RTL) in patients with CHH, their first-degree relatives and healthy controls and correlated RTL with clinical and laboratory features...
May 2017: Journal of Medical Genetics
https://read.qxmd.com/read/27943351/germline-mosaicism-is-a-pitfall-in-pgd-for-x-linked-disorders-single-sperm-typing-detects-very-low-frequency-paternal-gonadal-mosaicism-in-a-case-of-recurrent-chondrodysplasia-punctata-misattributed-to-a-maternal-origin
#199
Victoria Viart, Marjolaine Willems, Aliya Ishmukhametova, Fabienne Dufernez, Tal Anahory, Samir Hamamah, Sébastien Schmitt, Mireille Claustres, Anne Girardet
This manuscript presents a molecularly demonstrated gonadal mosaicism from paternal origin for X-linked dominant chondrodysplasia punctata by single sperm typing. A couple who had experienced two medical terminations of pregnancy of female fetuses was referred to our pre-implantation genetic diagnosis (PGD) centre with the diagnosis of maternally derived gonadal mosaicism. Indeed, genetic analyses of different DNA samples - including semen - from the healthy parents failed to detect the variant found in the fetuses...
February 2017: Prenatal Diagnosis
https://read.qxmd.com/read/27882938/neutral-sphingomyelinase-smpd3-deficiency-disrupts-the-golgi-secretory-pathway-and-causes-growth-inhibition
#200
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
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