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Skeletal dysplasia

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https://www.readbyqxmd.com/read/29138412/novel-kiaa0753-mutations-extend-the-phenotype-of-skeletal-ciliopathies
#1
A Hammarsjö, Z Wang, R Vaz, F Taylan, M Sedghi, K M Girisha, D Chitayat, K Neethukrishna, P Shannon, R Godoy, K Gowrishankar, A Lindstrand, J Nasiri, M Baktashian, P T Newton, L Guo, W Hofmeister, M Pettersson, A S Chagin, G Nishimura, L Yan, N Matsumoto, A Nordgren, N Miyake, G Grigelioniene, S Ikegawa
The skeletal ciliopathies are a heterogeneous group of disorders with a significant clinical and genetic variability and the main clinical features are thoracic hypoplasia and short tubular bones. To date, 25 genes have been identified in association with skeletal ciliopathies. Mutations in the KIAA0753 gene have recently been associated with Joubert syndrome (JBTS) and orofaciodigital (OFD) syndrome. We report biallelic pathogenic variants in KIAA0753 in four patients with short-rib type skeletal dysplasia...
November 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29134781/clinical-and-molecular-genetic-characterization-of-a-male-patient-with-sensenbrenner-syndrome-cranioectodermal-dysplasia-and-biallelic-wdr35-mutations
#2
Joanna Walczak-Sztulpa, Anna Wawrocka, Anna Swiader-Lesniak, Magdalena Socha, Aleksander Jamsheer, Dorota Drozdz, Anna Latos-Bielenska, Katarzyna Zachwieja
BACKGROUND: Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy first described by Judith Sensenbrenner in 1975. CED is a complex disorder characterized by craniofacial, skeletal, and ectodermal abnormalities. The clinical symptoms are variable and the CED phenotype may present intrafamilial and interfamilial differences. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disease...
November 14, 2017: Birth defects research
https://www.readbyqxmd.com/read/29122926/defect-in-phosphoinositide-signalling-through-a-homozygous-variant-in-plcb3-causes-a-new-form-of-spondylometaphyseal-dysplasia-with-corneal-dystrophy
#3
Salma Ben-Salem, Sarah M Robbins, Nara Lm Sobreira, Angeline Lyon, Aisha M Al-Shamsi, Barira K Islam, Nadia A Akawi, Anne John, Pramathan Thachillath, Sania Al Hamed, David Valle, Bassam R Ali, Lihadh Al-Gazali
BACKGROUND: Bone dysplasias are a large group of disorders affecting the growth and structure of the skeletal system. METHODS: In the present study, we report the clinical and molecular delineation of a new form of syndromic autosomal recessive spondylometaphyseal dysplasia (SMD) in two Emirati first cousins. They displayed postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving the spine, pelvis and metaphyses, corneal clouding and intellectual disability...
November 9, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29121203/functional-characterization-of-tektin-1-in-motile-cilia-and-evidence-for-tekt1-as-a-new-candidate-gene-for-motile-ciliopathies
#4
Rebecca Ryan, Marion Failler, Madeline Louise Reilly, Meriem Garfa-Traore, Marion Delous, Emilie Filhol, Thérèse Reboul, Christine Bole-Feysot, Patrick Nitschké, Véronique Baudouin, Serge Amselem, Estelle Escudier, Marie Legendre, Alexandre Benmerah, Sophie Saunier
A child presenting with Mainzer-Saldino syndrome (MZSDS), characterized by renal, retinal and skeletal involvements, was also diagnosed with lung infections and airway ciliary dyskinesia. These manifestations suggested dysfunction of both primary and motile cilia, respectively. Targeted exome sequencing identified biallelic mutations in WDR19, encoding an IFT-A subunit previously associated with MZSDS-related chondrodysplasia, Jeune asphyxiating thoracic dysplasia and cranioectodermal dysplasia, linked to primary cilia dysfunction, and in TEKT1 which encodes tektin-1 an uncharacterized member of the tektin family, mutations of which may cause ciliary dyskinesia...
November 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29118720/altered-right-ventricular-mechanical-properties-are-afterload-dependent-in-a-rodent-model-of-bronchopulmonary-dysplasia
#5
Jitandrakumar R Patel, Gregory P Barton, Rudolf K Braun, Kara N Goss, Kristin Haraldsdottir, Alexandria Hopp, Gary Diffee, Timothy A Hacker, Richard L Moss, Marlowe W Eldridge
Infants born premature are at increased risk for development of bronchopulmonary dysplasia (BPD), pulmonary hypertension (PH), and ultimately right ventricular (RV) dysfunction, which together carry a high risk of neonatal mortality. However, the role alveolar simplification and abnormal pulmonary microvascular development in BPD affects RV contractile properties is unknown. We used a rat model of BPD to examine the effect of hyperoxia-induced PH on RV contractile properties. We measured in vivo RV pressure as well as passive force, maximum Ca(2+) activated force, calcium sensitivity of force (pCa50) and rate of force redevelopment (ktr) in RV skinned trabeculae isolated from hearts of 21-and 35-day old rats pre-exposed to 21% oxygen (normoxia) or 85% oxygen (hyperoxia) for 14 days after birth...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/29106399/a-microrna-screen-reveals-that-elevated-hepatic-ectodysplasin-a-expression-contributes-to-obesity-induced-insulin-resistance-in-skeletal-muscle
#6
Motoharu Awazawa, Paula Gabel, Eva Tsaousidou, Hendrik Nolte, Marcus Krüger, Joel Schmitz, P Justus Ackermann, Claus Brandt, Janine Altmüller, Susanne Motameny, F Thomas Wunderlich, Jan-Wilhelm Kornfeld, Matthias Blüher, Jens C Brüning
Over 40% of microRNAs (miRNAs) are located in introns of protein-coding genes, and many of these intronic miRNAs are co-regulated with their host genes. In such cases of co-regulation, the products of host genes and their intronic miRNAs can cooperate to coordinately regulate biologically important pathways. Therefore, we screened intronic miRNAs dysregulated in the livers of mouse models of obesity to identify previously uncharacterized protein-coding host genes that may contribute to the pathogenesis of obesity-associated insulin resistance and type 2 diabetes mellitus...
November 6, 2017: Nature Medicine
https://www.readbyqxmd.com/read/29100092/mutations-in-fibronectin-cause-a-subtype-of-spondylometaphyseal-dysplasia-with-corner-fractures
#7
Chae Syng Lee, He Fu, Nissan Baratang, Justine Rousseau, Heena Kumra, V Reid Sutton, Marcello Niceta, Andrea Ciolfi, Guilherme Yamamoto, Débora Bertola, Carlo L Marcelis, Dorien Lugtenberg, Andrea Bartuli, Choel Kim, Julie Hoover-Fong, Nara Sobreira, Richard Pauli, Carlos Bacino, Deborah Krakow, Jillian Parboosingh, Patrick Yap, Ariana Kariminejad, Marie T McDonald, Mariana I Aracena, Ekkehart Lausch, Sheila Unger, Andrea Superti-Furga, James T Lu, Dan H Cohn, Marco Tartaglia, Brendan H Lee, Dieter P Reinhardt, Philippe M Campeau
Fibronectin is a master organizer of extracellular matrices (ECMs) and promotes the assembly of collagens, fibrillin-1, and other proteins. It is also known to play roles in skeletal tissues through its secretion by osteoblasts, chondrocytes, and mesenchymal cells. Spondylometaphyseal dysplasias (SMDs) comprise a diverse group of skeletal dysplasias and often manifest as short stature, growth-plate irregularities, and vertebral anomalies, such as scoliosis. By comparing the exomes of individuals with SMD with the radiographic appearance of "corner fractures" at metaphyses, we identified three individuals with fibronectin (FN1) variants affecting highly conserved residues...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29095481/biallelic-mutations-in-flnb-cause-a-skeletal-dysplasia-with-46-xy-gonadal-dysgenesis-by-activating-%C3%AE-catenin
#8
K Upadhyay, J Loke, V O, B Taragin, H Ostrer
Filamin B (FLNB) functions as a switch that can affect chrondrocyte development and endochondral bone formation through a series of signaling molecules and transcription factors that also affect Sertoli cell development. Here, we report a subject with a novel skeletal dysplasia and co-existing 46,XY gonadal dysgenesis and biallelic mutations in FLNB. Whole exome sequencing was performed to identify mutations. Quantitative qPCR and flow variant assays were performed to quantify RNA, proteins and phosphorylated proteins...
November 2, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29092958/wisp3-mutation-associated-with-pseudorheumatoid-dysplasia
#9
M Reza Sailani, James Chappell, Jingga Inlora, Linnea Lynch, Anil Narasimha, Safoura Mazroui, Amin Zia, Jonathan Bernstein, Omid Aryani, Michael P Snyder
Progressive pseudorheumatoid dysplasia (PPD) is a skeletal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness. Here we report genetic characterization of a consanguineous family segregating an uncharacterized from of skeletal dysplasia. Whole exome sequencing of four affected siblings and their parents identified a loss of function homozygous mutation in the WISP3 gene, leading to diagnosis of PPD in the affected individuals. The identified variant (chr6: 112382301; WISP3:c...
November 1, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29089101/a-novel-18-bp-in-frame-deletion-mutation-in-runx2-causes-cleidocranial-dysplasia
#10
Li Zeng, Jiahui Wei, Na Zhao, Shichen Sun, Yixiang Wang, Hailan Feng
OBJECTIVES: Runt-related transcription factor 2 (RUNX2) gene is known to cause rare autosomal dominant skeletal disorder Cleidocranial dysplasia (CCD). Here, we explored a novel, large deletion in RUNX2 gene in a Chinese patient with CCD and the function associated with the mutation. DESIGN: Genomic DNA was extracted from the peripheral blood and subjected to do DNA sequencing. Sanger sequencing was used to do mutational analysis of the RUNX2 gene. Function associated with RUNX2 mutation was investigated by performing conservation analysis, secondary structure analysis, subcellular localization study and reporter assay...
October 27, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/29080986/use-of-the-t%C3%A3-bingen-splint-for-the-initial-management-of-severely-dysplastic-and-unstable-hips-in-newborns-with-ddh-an-alternative-to-fettweis-plaster-and-pavlik-harness
#11
Hannes Kubo, Hakan Pilge, Kristina Weimann-Stahlschmidt, Karoline Stefanovska, Bettina Westhoff, Ruediger Krauspe
AIM: Hip dysplasia is one of the most common skeletal disorders. As a late consequence 20-25% of the patients are at risk to develop secondary osteoarthritis and may require total hip replacement early in life. The treatment principles of hip dislocation are (1) concentric reposition, (2) retention, i.e., plaster in human post or Pavlik harness and (3) maturation in abduction flexion orthesis. The Tübingen splint was introduced as a further development of abduction devices for the treatment of (residual) hip dysplasia with stable hips...
October 28, 2017: Archives of Orthopaedic and Trauma Surgery
https://www.readbyqxmd.com/read/29080836/identification-of-a-novel-mutation-in-the-fgfr3-gene-in-a-chinese-family-with-hypochondroplasia
#12
Jing Chen, Jiangfei Yang, Suzhou Zhao, Hui Ying, Guimei Li, Chao Xu
BACKGROUND: Hypochondroplasia (HCH; OMIM 146000) is a common autosomal dominant skeletal dysplasia characterized by disproportionate short stature, short extremities, relative macrocephaly, and lumbar lordosis. Because of its clinical and genetic heterogeneity, gene mutational analysis is particularly important in diagnosis and the phenotypes may be ameliorated if diagnosed early. MATERIALS AND METHODS: In this study, we examined a Chinese family with HCH, performed an inductive analysis of their clinical features and radiographic results, and applied targeted exome sequencing (TES) technology to perform a molecular diagnosis...
October 25, 2017: Gene
https://www.readbyqxmd.com/read/29073074/fgf4-retrogene-on-cfa12-is-responsible-for-chondrodystrophy-and-intervertebral-disc-disease-in-dogs
#13
Emily A Brown, Peter J Dickinson, Tamer Mansour, Beverly K Sturges, Miriam Aguilar, Amy E Young, Courtney Korff, Jenna Lind, Cassandra L Ettinger, Samuel Varon, Rachel Pollard, C Titus Brown, Terje Raudsepp, Danika L Bannasch
Chondrodystrophy in dogs is defined by dysplastic, shortened long bones and premature degeneration and calcification of intervertebral discs. Independent genome-wide association analyses for skeletal dysplasia (short limbs) within a single breed (PBonferroni = 0.01) and intervertebral disc disease (IVDD) across breeds (PBonferroni = 4.0 × 10(-10)) both identified a significant association to the same region on CFA12. Whole genome sequencing identified a highly expressed FGF4 retrogene within this shared region...
October 24, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29071510/heritable-skeletal-disorders-arising-from-defects-in-processing-and-transport-of-type-i-procollagen-from-the-er-perspectives-on-possible-therapeutic-approaches
#14
Meritxell B Cutrona, Niamh E Morgan, Jeremy C Simpson
Rare bone disorders are a heterogeneous group of diseases, initially associated with mutations in type I procollagen (PC) genes. Recent developments from dissection at the molecular and cellular level have expanded the list of disease-causing proteins, revealing that disruption of the machinery that handles protein secretion can lead to failure in PC secretion and in several cases result in skeletal dysplasia. In parallel, cell-based in vitro studies of PC trafficking pathways offer clues to the identification of new disease candidate genes...
October 26, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/29068549/expanding-the-genetic-architecture-and-phenotypic-spectrum-in-the-skeletal-ciliopathies
#15
Wenjuan Zhang, S Paige Taylor, Hayley A Ennis, Kimberly N Forlenza, Ivan Duran, Bing Li, Jorge A Ortiz Sanchez, Lisette Nevarez, Deborah A Nickerson, Michael Bamshad, Ralph S Lachman, Deborah Krakow, Daniel H Cohn
Defects in the biosynthesis and/or function of primary cilia cause a spectrum of disorders collectively referred to as ciliopathies. A subset of these disorders is distinguished by profound abnormalities of the skeleton that include a long narrow chest with markedly short ribs, extremely short limbs, and polydactyly. These include the perinatal lethal short-rib polydactyly syndromes (SRPS) and the less severe asphyxiating thoracic dystrophy (ATD), Ellis van Creveld (EVC) syndrome and cranioectodermal dysplasia (CED) phenotypes...
October 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/29063142/molecular-therapeutic-strategies-for-fgfr3-gene-related-skeletal-dysplasia
#16
REVIEW
Jia Chen, Jiaqi Liu, Yangzhong Zhou, Sen Liu, Gang Liu, Yuzhi Zuo, Zhihong Wu, Nan Wu, Guixing Qiu
The FGFR3 gene encodes fibroblast growth factor receptor 3 protein, a negative regulator of chondrogenesis. Gain-of-function mutations result in constitutively activated FGFR3, leading to aberrant signal transduction, and accounting for inhibition of chondrocyte proliferation and differentiation. Generally, these pathogenic mutations maintain FGFR3 in an active state and cause diverse phenotypes in patients with skeletal dysplasia. For decades, studies have revealed the molecular mechanisms of constitutively activated FGFR3 and relevant therapeutic strategies...
October 23, 2017: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/29056748/wnt-induced-vangl2-phosphorylation-is-dose-dependently-required-for-planar-cell-polarity-in-mammalian-development
#17
Wei Yang, Lisa Garrett, Di Feng, Gene Elliott, Xilin Liu, Ni Wang, Yu Ming Wong, Nga Ting Choi, Yingzi Yang, Bo Gao
Planar cell polarity (PCP) is an evolutionarily conserved essential mechanism that provides directional information to control and coordinate polarized cellular and tissue behavior during embryonic development. Disruption of PCP leads to severe morphological defects in vertebrates and its dysregulation results in a variety of human diseases such as neural tube defects and skeletal dysplasia. PCP is governed by a set of highly conserved core proteins that are asymmetrically localized at the cell surface throughout the polarized tissues...
October 20, 2017: Cell Research
https://www.readbyqxmd.com/read/29054894/mucopolysaccharidosis-type-iva-morquio-a-a-close-differential-diagnosis-of-spondylo-epiphyseal-dysplasia
#18
Sugata Narayan Biswas, Shinjan Patra, Partha Pratim Chakraborty, Himanshu Barman
Patients with mucopolysaccharidoses (MPS) have a plethora of multisystemic manifestations depending on the particular type, and atypical presentations are not uncommon. MPS type IVA (Morquio A syndrome) has predominant musculoskeletal system involvement and corneal clouding with normal intelligence and can be misdiagnosed as primary skeletal disorders in clinical practice. The absence of corneal clouding with normal urinary glycosaminoglycans (GAGs) level in a proportion of patients with MPS IVA makes the correct diagnosis even more challenging for physicians...
October 20, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29054766/rethinking-genotype-phenotype-correlations-in-papillorenal-syndrome-a-case-report-on-an-unusual-congenital-camptodactyly-and-skeletal-deformity-with-a-heterogeneous-pax2-mutation-of-hexanucleotide-duplication
#19
Jiewei Liu, Ping Wang, Juan Huang, Zihua Yu
Papillorenal syndrome (PRS), an autosomal dominant inherited condition, is clinically featured by renal hypoplasia and optic nerve dysplasia. Based on current knowledge of genotype-phenotype correlations in PRS, mutations in the Paired box 2 (PAX2) gene have been recognized as a critical pathogenesis of typical renal and optic disease manifestations. However, little information is currently available on the skeletal abnormalities of PRS and the potential contribution of PAX2 mutations. Here, we present a case of a 10-year-old female PRS patient with the typical features of chronic renal failure and severe myopia, but was unexpectedly discovered camptodactyly of her left middle finger which affects the proximal interphalangeal joint...
October 17, 2017: Gene
https://www.readbyqxmd.com/read/29051881/fracture-management-in-pyknodysostosis-a-rare-case-report
#20
G Subramanya Gandhi, V Vijayanarasimhan, Lionel John, S Kailash, E Sathish Balaji
INTRODUCTION: Pyknodysostosis is congenital osteosclerotic skeletal dysplasia of a rare entity. It is an autosomal recessive disease which presents with short stature and generalized osteosclerosis of skeleton as result of decreased bone turnover. Here, the authors report a case of pyknodysostosis who presented to our emergency room with a pathological fracture in the shaft of the femur for which operative intervention was carried out. CASE REPORT: A 30-year-old female presented to our emergency room with a history of trivial injury to right thigh region and was diagnosed as fracture in her right femur shaft region...
May 2017: Journal of Orthopaedic Case Reports
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