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https://www.readbyqxmd.com/read/29017490/germline-mutation-within-col2a1-associated-with-lethal-chondrodysplasia-in-a-polled-holstein-family
#1
Sina Reinartz, Hartmut Mohwinkel, Christian Sürie, Maren Hellige, Karsten Feige, Deborah Eikelberg, Andreas Beineke, Julia Metzger, Ottmar Distl
BACKGROUND: The bulldog calf syndrome is a lethal form of the inherited congenital chondrodysplasias. Among the progeny of the polled Holstein bull Energy P cases of lethal chondrodysplasia were observed. Pedigrees of the cases and the frequency of 3/8 cases among the offspring of Energy P at our teaching and experimental farm Ruthe (LuFG Ruthe) supported the assumption of a germline mutation with a mosaic of normal and defective sperm. RESULTS: All three malformed calves were examined using necropsy, histopathology and computed tomography scanning...
October 10, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28983104/shp2-regulates-the-osteogenic-fate-of-growth-plate-hypertrophic-chondrocytes
#2
Lijun Wang, Jiahui Huang, Douglas C Moore, Chunlin Zuo, Qian Wu, Liqin Xie, Klaus von der Mark, Xin Yuan, Di Chen, Matthew L Warman, Michael G Ehrlich, Wentian Yang
Transdifferentiation of hypertrophic chondrocytes into bone-forming osteoblasts has been reported, yet the underlying molecular mechanism remains incompletely understood. SHP2 is an ubiquitously expressed cytoplasmic protein tyrosine phosphatase. SHP2 loss-of-function mutations in chondroid cells are linked to metachondromatosis in humans and mice, suggesting a crucial role for SHP2 in the skeleton. However, the specific role of SHP2 in skeletal cells has not been elucidated. To approach this question, we ablated SHP2 in collagen 2α1(Col2α1)-Cre- and collagen 10α1(Col10α1)-Cre-expressing cells, predominantly proliferating and hypertrophic chondrocytes, using "Cre-loxP"-mediated gene excision...
October 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28977598/rac1-dosage-is-crucial-for-normal-endochondral-bone-growth
#3
Dai Suzuki, Jason R Bush, Dawn-Marie Bryce, Ryutaro Kamijo, Frank Beier
Rac1, a member of the small Rho GTPase family, plays multiple cellular roles. Studies of mice conditionally lacking Rac1 have revealed essential roles for Rac1 in various tissues, including cartilage and limb mesenchyme, where Rac1 loss produces dwarfism and long bone shortening. To gain further insight into the role of Rac1 in skeletal development, we have used transgenic mouse lines to express a constitutively active (ca) Rac1 mutant protein in a Cre recombinase-dependent manner. Overexpression of caRac1 in limb bud mesenchyme or chondrocytes leads to reduced body weight and shorter bones compared with control mice...
October 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/28964968/dephosphorylation-is-the-mechanism-of-fibroblast-growth-factor-inhibition-of-guanylyl-cyclase-b
#4
Jerid W Robinson, Jeremy R Egbert, Julia Davydova, Hannes Schmidt, Laurinda A Jaffe, Lincoln R Potter
Activating mutations in fibroblast growth factor receptor 3 (FGFR3) and inactivating mutations of guanylyl cyclase-B (GC-B, also called NPRB or NPR2) cause dwarfism. FGF exposure inhibits GC-B activity in a chondrocyte cell line, but the mechanism of the inactivation is not known. Here, we report that FGF exposure causes dephosphorylation of GC-B in rat chondrosarcoma cells, which correlates with a rapid, potent and reversible inhibition of C-type natriuretic peptide-dependent activation of GC-B. Cells expressing a phosphomimetic mutant of GC-B that cannot be inactivated by dephosphorylation because it contains glutamate substitutions for all known phosphorylation sites showed no decrease in GC-B activity in response to FGF...
September 28, 2017: Cellular Signalling
https://www.readbyqxmd.com/read/28961939/an-evolutionary-genomic-perspective-on-the-breeding-of-dwarf-chickens
#5
Ming-Shan Wang, Newton O Otecko, Sheng Wang, Dong-Dong Wu, Min-Min Yang, Yi-Long Xu, Robert W Murphy, Min-Sheng Peng, Ya-Ping Zhang
The evolutionary history for dwarfism in chickens remains an enigma. Herein, we explore the evolution of the Serama, the smallest breed of chicken. Leveraging comparative population genomics, analyses identify several genes that are potentially associated with the growth and development of bones and muscles. These genes, and in particular both POU1F1 and IGF1, are under strong positive selection. Three allopatric dwarf bantams (Serama, Yuanbao, and Daweishan) with different breeding-histories, form distinct clusters and exhibit unique population structures...
September 5, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28950429/the-role-of-ellis-van-creveld-2-evc2-in-mice-during-cranial-bone-development
#6
Edwin K Kwon, Ke'ale Louie, Anshul Kulkarni, Marilia Yatabe, Antonio Carlos de Oliveira Ruellas, Taylor N Snider, Yoshiyuki Mochida, Lucia H S Cevidanes, Yuji Mishina, Honghao Zhang
EvC syndrome is a type of autosomal-recessive chondrodysplasia. Previous case studies in patients suggest abnormal craniofacial development, in addition to dwarfism and tooth abnormalities. To investigate how craniofacial development is affected in EvC patients, surface models were generated from micro-CT scans of control mice, Evc2 global mutant mice and Evc2 neural crest-specific mutant mice. The anatomic landmarks were placed on the surface model to assess the morphological abnormalities in the Evc2 mutants...
September 26, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28947685/-growth-of-maxillo-facial-region-and-related-anomalies
#7
Naoto Suda
Since maxillo-facial region is quite complex, growth and developmental defect cause various anomalies. It is known that 70% of whole genetic disorders have any symptom or abnormal condition in maxilla-facial region. Cleft lip and/or palate is the most popular congenital anomaly and is seen in 0.2% of general population. Cases with Treacher Collins syndrome and Robin sequence are with respiratory problem due to the small mandible or mandibular retrusion. Achondroplasia is a genetic disease with short-limbed dwarfism due to abnormal proliferation or differentiation of chondrocytes...
2017: Clinical Calcium
https://www.readbyqxmd.com/read/28945823/thermal-experience-during-embryogenesis-contributes-to-the-induction-of-dwarfism-in-whitefish-coregonus-lavaretus
#8
Peter Steinbacher, Josef Wanzenböck, Magdalena Brandauer, Raphael Holper, Jasmin Landertshammer, Magdalena Mayr, Christian Platzl, Walter Stoiber
Ecotype pairs provide well-suited model systems for study of intraspecific phenotypical diversification of animals. However, little is still known about the processes that account for the development of different forms and sizes within a species, particularly in teleosts. Here, embryos of a normal-growing 'large' form and a dwarf form of whitefish Coregonus lavaretus were incubated at two temperatures that are usually experienced at their own spawning sites (2°C for the normal and 6°C for the dwarf form)...
2017: PloS One
https://www.readbyqxmd.com/read/28944240/novel-compound-heterozygous-mutations-in-telo2-in-a-patient-with-severe-expression-of-you-hoover-fong-syndrome
#9
Shahida Moosa, Janine Altmüller, Troels Lyngbye, Rikke Christensen, Yun Li, Peter Nürnberg, Gökhan Yigit, Ida Vogel, Bernd Wollnik
BACKGROUND: Very recently, compound heterozygous loss-of-function mutations in TELO2 were shown to underlie the newly-described You-Hoover-Fong syndrome. TELO2 forms part of the co-chaperone triple T complex (TTT complex), which plays an important role in the maturation and stabilization of the phosphatidylinositol 3-kinase-related protein kinases (PIKKs). Patients with mutations in TELO2 present with microcephaly and associated intellectual disability, postnatal growth retardation and dysmorphic features...
September 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28942426/rapid-dna-synthesis-during-early-drosophila%C3%A2-embryogenesis-is-sensitive-to-maternal-humpty-dumpty-protein-function
#10
Shera Lesly, Jennifer L Bandura, Brian R Calvi
Problems with DNA replication cause cancer and developmental malformations. It is not fully understood how DNA replication is coordinated with development and perturbed in disease. We had previously identified the Drosophila gene humpty dumpty (hd) and showed that null alleles cause incomplete DNA replication, tissue undergrowth, and lethality. Animals homozygous for the missense allele, hd(272-9) , were viable, but adult females had impaired amplification of eggshell protein genes in the ovary, resulting in the maternal effects of thin eggshells and embryonic lethality...
September 23, 2017: Genetics
https://www.readbyqxmd.com/read/28920921/increased-intracellular-proteolysis-reduces-disease-severity-in-an-er-stress-associated-dwarfism
#11
Lorna A Mullan, Ewa J Mularczyk, Louise H Kung, Mitra Forouhan, Jordan Ma Wragg, Royston Goodacre, John F Bateman, Eileithyia Swanton, Michael D Briggs, Raymond P Boot-Handford
The short-limbed dwarfism metaphyseal chondrodysplasia type Schmid (MCDS) is linked to mutations in type X collagen, which increase ER stress by inducing misfolding of the mutant protein and subsequently disrupting hypertrophic chondrocyte differentiation. Here, we show that carbamazepine (CBZ), an autophagy-stimulating drug that is clinically approved for the treatment of seizures and bipolar disease, reduced the ER stress induced by 4 different MCDS-causing mutant forms of collagen X in human cell culture...
October 2, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28918072/development-of-a-duplex-semi-nested-pcr-assay-for-detection-of-classical-goose-parvovirus-and-novel-goose-parvovirus-related-virus-in-sick-or-dead-ducks-with-short-beak-and-dwarfism-syndrome
#12
Pengfei Li, Ruihua Zhang, Junhao Chen, Dapeng Sun, Jingjing Lan, Shaoli Lin, Shasha Song, Zhijing Xie, Shijin Jiang
Duck short beak and dwarfism syndrome (SBDS) is an emerging infectious disease caused by a novel goose parvovirus-related virus (NGPV) in China. Until now, it remains uncertain whether the Cherry Valley ducks and mule ducks with SBDS are co-infected with classical goose parvovirus (GPV) and NGPV. In this study, a duplex semi-nested PCR assay with high specificity and sensitivity was developed for detection of the two viruses. Using the duplex PCR assay, NGPV was tested positive in all the 15 duck flocks with SBDS, whereas classical GPV was not detected in all the 133 sick and dead ducks collected from East China...
November 2017: Journal of Virological Methods
https://www.readbyqxmd.com/read/28832566/analysis-of-centrosome-and-dna-damage-response-in-plk4-associated-seckel-syndrome
#13
Tuba Dinçer, Gülden Yorgancıoğlu-Budak, Akgün Ölmez, İdris Er, Yavuz Dodurga, Özmert Ma Özdemir, Bayram Toraman, Adem Yıldırım, Nuran Sabir, Nurten A Akarsu, C Nur Semerci, Ersan Kalay
Microcephalic primordial dwarfism (MPD) is a group of autosomal recessive inherited single-gene disorders with intrauterine and postnatal global growth failure. Seckel syndrome is the most common form of the MPD. Ten genes are known with Seckel syndrome. Using genome-wide SNP genotyping and homozygosity mapping we mapped a Seckel syndrome gene to chromosomal region 4q28.1-q28.3 in a Turkish family. Direct sequencing of PLK4 (polo-like kinase 4) revealed a homozygous splicing acceptor site transition (c.31-3 A>G) that results in a premature translation termination (p...
October 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28821782/rapid-dwarfing-of-an-insular-mammal-the-feral-cattle-of-amsterdam-island
#14
Roberto Rozzi, Mark V Lomolino
The island rule describes a graded trend in insular populations of vertebrates from gigantism in small species to dwarfism in large species. The dwarfing of large mammals on islands has been observed both in the present fauna and in the fossil record. Elephants, hippopotami, deer, and other species became dwarfed on islands scattered all over the world, from the Mediterranean Sea to Indonesia, from the Eastern to Western Pacific Ocean, from the Caribbean to Canary Islands. The most rapid and well documented cases of island dwarfing known thus far took place over thousands of years...
August 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28819598/two-staged-bilateral-femoral-alignment-osteotomy-with-concomitant-total-knee-arthroplasty-in-an-achondroplasia-patient-a-case-report
#15
Sebastian G Walter, Tobias Schwering, Stefan Preiss
INTRODUCTION: Achondroplasia is the most common form of dwarfism in humans and is orthopedically characterized by shortened extremities and an exaggerated lumbar lordosis. The surgical challenges are maintenance of axial alignment during limb lengthening as well as joint preservation and alignment restoration. CASE REPORT: We present a 46-year-old female suffering from achondroplasia with severe pain in both knees. Severe varus deformities of both femurs and degeneration of both knee joints became apparent on clinical and radiological examination...
March 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28789632/catalytic-and-functional-aspects-of-different-isozymes-of-glycolate-oxidase-in-rice
#16
Zhisheng Zhang, Xiangyang Li, Lili Cui, Shuan Meng, Nenghui Ye, Xinxiang Peng
BACKGROUND: Glycolate oxidase (GLO) is a key enzyme for photorespiration in plants. There are four GLO genes encoding and forming different isozymes in rice, but their functional differences are not well understood. In this study, enzymatic and physiological characteristics of the GLO isozymes were comparatively analyzed. RESULTS: When expressed heterologously in yeast, GLO1, GLO4 and GLO1 + 4 showed the highest activities and lowest K m for glycolate as substrate, whereas GLO3 displayed high activities and affinities for both glycolate and L-lactate, and GLO5 was catalytically inactive with all substrates tested...
August 8, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/28743979/expression-of-rmrp-rna-is-regulated-in-chondrocyte-hypertrophy-and-determines-chondrogenic-differentiation
#17
Mandy M F Steinbusch, Marjolein M J Caron, Don A M Surtel, Franziska Friedrich, Ekkehart Lausch, Ger J M Pruijn, Wouter Verhesen, Blanche L M Schroen, Lodewijk W van Rhijn, Bernhard Zabel, Tim J M Welting
Mutations in the RMRP-gene, encoding the lncRNA component of the RNase MRP complex, are the origin of cartilage-hair hypoplasia. Cartilage-hair hypoplasia is associated with severe dwarfism caused by impaired skeletal development. However, it is not clear why mutations in RMRP RNA lead to skeletal dysplasia. Since chondrogenic differentiation of the growth plate is required for development of long bones, we hypothesized that RMRP RNA plays a pivotal role in chondrogenic differentiation. Expression of Rmrp RNA and RNase MRP protein subunits was detected in the murine growth plate and during the course of chondrogenic differentiation of ATDC5 cultures, where Rmrp RNA expression was found to be correlated with chondrocyte hypertrophy...
July 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28739045/filamin-b-the-next-hotspot-in-skeletal-research
#18
REVIEW
Qiming Xu, Nan Wu, Lijia Cui, Zhihong Wu, Guixing Qiu
Filamin B (FLNB) is a large dimeric actin-binding protein which crosslinks actin cytoskeleton filaments into a dynamic structure. Up to present, pathogenic mutations in FLNB are solely found to cause skeletal deformities, indicating the important role of FLNB in skeletal development. FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO), boomerang dysplasia (BD), and isolated congenital talipes equinovarus, presenting with scoliosis, short-limbed dwarfism, clubfoot, joint dislocation and other unique skeletal abnormalities...
July 20, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28738237/a-case-report-of-unexpected-pathology-within-an-incarcerated-ventral-hernia
#19
Erica D Kane, Katharine R Bittner, Michelle Bennett, John R Romanelli, Neal E Seymour, Jacqueline J Wu
INTRODUCTION: Incidence of hernial appendicitis is 0.008%, most frequently within inguinal and femoral hernias. Up to 2.5% of appendectomy patients are found to have Crohn's disease. Elucidating the etiology of inflammation is essential for directing management. PRESENTATION OF CASE: A 51-year-old female with achondroplastic dwarfism, multiple cesarean sections, and subsequent massive incisional hernia, presented with ruptured appendicitis within her incarcerated hernia...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28733852/wax-crystal-sparse-leaf-4-encoding-a-%C3%AE-ketoacyl-coenzyme-a-synthase-6-is-involved-in-rice-cuticular-wax-accumulation
#20
Lu Gan, Shanshan Zhu, Zhichao Zhao, Linglong Liu, Xiaole Wang, Zhe Zhang, Xin Zhang, Jie Wang, Jiulin Wang, Xiuping Guo, Jianmin Wan
WSL4 encodes a KCS6 protein which is required for cuticular wax accumulation in rice. Very long chain fatty acids (VLCFAs) are essential precursors for cuticular wax biosynthesis. VLCFA biosynthesis occurs in the endoplasmic reticulum and requires the fatty acid elongase (FAE) complex. The β-ketoacyl-coenzyme A synthase (KCS) catalyzes the first step of FAE-mediated VLCFA elongation. Here we characterized the Wax Crystal-Sparse Leaf 4 (WSL4) gene involved in leaf cuticular wax accumulation in rice. The wsl4 mutant displayed a pleiotropic phenotype including dwarfism, less tiller numbers and reduced surface wax load...
July 21, 2017: Plant Cell Reports
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