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https://www.readbyqxmd.com/read/28684548/lem-domain-proteins-are-lost-during-human-spermiogenesis-but-baf-and-baf-l-persist
#1
Razan A Elkhatib, Marine Paci, Romain Boissier, Guy Longepied, Yasmina Auguste, Vincent Achard, Patrice Bourgeois, Nicolas Levy, Nicolas Branger, Michael J Mitchell, Catherine Metzler-Guillemain
During spermiogenesis the spermatid nucleus is elongated, and dramatically reduced in size with protamines replacing histones to produce a highly compacted chromatin. After fertilisation, this process is reversed in the oocyte to form the male pronucleus. Emerging evidence, including the coordinated loss of the nuclear lamina (NL) and the histones, supports the involvement of the NL in spermatid nuclear remodelling, but how the NL links to the chromatin is not known. In somatic cells, interactions between the NL and the chromatin have been demonstrated: LEM-domain proteins and LBR interact with the NL and, respectively, the chromatin proteins BAF and HP1...
July 6, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28676968/melorheostosis-a-rare-sclerosing-bone-dysplasia
#2
REVIEW
Anupam Kotwal, Bart L Clarke
PURPOSE OF REVIEW: Melorheostosis is a rare sclerosing bone dysplasia that affects both cortical bone and adjacent soft tissue structures in a sclerotomal distribution. In this review, we describe the natural history, radiological features, proposed pathogenesis, and management options for this debilitating condition. RECENT FINDINGS: Since its first description in 1922, about 400 cases of melorheostosis have been reported, either as single reports or in small case series...
July 4, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28434888/melorheostosis-exome-sequencing-of-an-associated-dermatosis-implicates-postzygotic-mosaicism-of-mutated-kras
#3
Michael P Whyte, Malachi Griffith, Lee Trani, Steven Mumm, Gary S Gottesman, William H McAlister, Kilannin Krysiak, Robert Lesurf, Zachary L Skidmore, Katie M Campbell, Ilana S Rosman, Susan Bayliss, Vinieth N Bijanki, Angela Nenninger, Brian A Van Tine, Obi L Griffith, Elaine R Mardis
Melorheostosis (MEL) is the rare sporadic dysostosis characterized by monostotic or polyostotic osteosclerosis and hyperostosis often distributed in a sclerotomal pattern. The prevailing hypothesis for MEL invokes postzygotic mosaicism. Sometimes scleroderma-like skin changes, considered a representation of the pathogenetic process of MEL, overlie the bony changes, and sometimes MEL becomes malignant. Osteopoikilosis (OPK) is the autosomal dominant skeletal dysplasia that features symmetrically distributed punctate osteosclerosis due to heterozygous loss-of-function mutation within LEMD3...
August 2017: Bone
https://www.readbyqxmd.com/read/28407409/clinical-and-molecular-characterization-of-a-second-family-with-the-12q14-microdeletion-syndrome-and-review-of-the-literature
#4
Rita Fischetto, Orazio Palumbo, Federica Ortolani, Pietro Palumbo, Maria Pia Leone, Francesco Andrea Causio, Sabino Pesce, Maria Christina Digilio, Massimo Carella, Francesco Papadia
The 12q14 microdeletion syndrome is a rare condition characterized by low birth weight, failure to thrive, short stature, learning disabilities, and osteopoikilosis. To date, 20 cases of 12q14 deletion have been reported in the literature, displaying both phenotypic than genetic variability. We report on three familial cases, a mother and two brothers, with severe short stature. The mother and elder brother presented with osteopoikilosis while the younger brother had severe short stature and developmental delay...
April 13, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28407177/mrna-and-protein-expression-levels-of-four-candidate-genes-for-ear-size-in-erhualian-and-large-white-pigs
#5
L C Zhang, J Liang, L Pu, Y B Zhang, L G Wang, X Liu, H Yan, L X Wang
Porcine ear size is an important characteristic for distinguishing among pig breeds. In a previous genome-wide association study of porcine ear size, LEM domain-containing 3 (LEMD3), methionine sulfoxide reductase B3 (MSRB3), high mobility group AT-hook 2 (HMGA2), and Wnt inhibitory factor 1 (WIF1) were implicated as important candidate genes for ear size. This study investigated the expression levels of four candidate genes for ear size in Erhualian and Large White pigs. Ten Erhualian pigs with large ears and eight Large White pigs with small ears at 60 days of age were examined...
April 13, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28203683/identification-of-unique-venous-thromboembolism-susceptibility-variants-in-african-americans
#6
John A Heit, Sebastian M Armasu, Bryan M McCauley, Iftikhar J Kullo, Hugues Sicotte, Jyotishman Pathak, Christopher G Chute, Omri Gottesman, Erwin P Bottinger, Joshua C Denny, Dan M Roden, Rongling Li, Marylyn D Ritchie, Mariza de Andrade
To identify novel single nucleotide polymorphisms (SNPs) associated with venous thromboembolism (VTE) in African-Americans (AAs), we performed a genome-wide association study (GWAS) of VTE in AAs using the Electronic Medical Records and Genomics (eMERGE) Network, comprised of seven sites each with DNA biobanks (total ~39,200 unique DNA samples) with genome-wide SNP data (imputed to 1000 Genomes Project cosmopolitan reference panel) and linked to electronic health records (EHRs). Using a validated EHR-driven phenotype extraction algorithm, we identified VTE cases and controls and tested for an association between each SNP and VTE using unconditional logistic regression, adjusted for age, sex, stroke, site-platform combination and sickle cell risk genotype...
April 3, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/27382493/mutation-in-lemd3-man1-associated-with-osteopoikilosis-and-late-onset-generalized-morphea-a-new-buschke-ollendorf-syndrome-variant
#7
Benjamin Korman, Jun Wei, Anne Laumann, Polly Ferguson, John Varga
Introduction. Buschke-Ollendorf syndrome (BOS) is an uncommon syndrome characterized by osteopoikilosis and other bone abnormalities, accompanied by skin lesions, most frequently connective tissue nevi. BOS is caused by mutations in the LEMD3 gene, which encodes the inner nuclear membrane protein Man1. We describe a unique case of osteopoikilosis associated with late-onset localized scleroderma and familial LEMD3 mutations. Case Report. A 72-year-old woman presented with adult-onset diffuse morphea and bullous skin lesions...
2016: Case Reports in Dermatological Medicine
https://www.readbyqxmd.com/read/27267960/the-buschke-ollendorff-syndrome-a-case-report-of-simultaneous-osteo-cutaneous-malformations-in-the-hand
#8
Michael Brodbeck, Q Yousif, P A Diener, M Zweier, J Gruenert
BACKGROUND: We describe a male with functionally impairing radial deviation of the thumb who presented to us at 24 years of age. Two sclerotic skin lesions had been excised 7 years before because of consecutive skin contracture. Latest radiological examination showed a spotted pattern consistent with osteopoikilosis. CASE PRESENTATION: A corrective osteotomy of the thumb was carried out due to the patients discomfort. Facing the simultaneous osteo-cutaneous malformation we postulated a Buschke-Ollendorff syndrome...
June 7, 2016: BMC Research Notes
https://www.readbyqxmd.com/read/27007781/identification-of-a-novel-point-mutation-in-the-lemd3-gene-in-an-infant-with-buschke-ollendorff-syndrome
#9
Johanna Kratzsch, Diana Mitter, Mirjana Ziemer, Jürgen Kohlhase, Harald Voth
No abstract text is available yet for this article.
July 1, 2016: JAMA Dermatology
https://www.readbyqxmd.com/read/26708699/buschke-ollendorff-syndrome-a-novel-case-series-and-systematic-review
#10
REVIEW
V Pope, L Dupuis, P Kannu, R Mendoza-Londono, D Sajic, J So, G Yoon, I Lara-Corrales
Buschke-Ollendorff syndrome (BOS) is a rare, often benign, autosomal skin disorder. BOS commonly presents with nontender connective tissue naevi and sclerotic bony lesions (osteopoikilosis [OPK]). Herein, we summarize the presenting features of BOS and potential associations by conducting a systematic review of the literature and summarizing a cohort seen at the Hospital for Sick Children (HSC), Toronto, Canada. PubMed was searched using the following terms: 'BOS'; 'dermatofibrosis lenticularis'; 'OPK'; 'LEMD3'; 'elastoma'; 'collagenoma'...
April 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/26135202/novel-somatic-mutation-in-lemd3-splice-site-results-in-buschke-ollendorff-syndrome-with-polyostotic-melorheostosis-and-osteopoikilosis
#11
Daniel Gutierrez, Kevin D Cooper, Anna L Mitchell, Heather I Cohn
Buschke-Ollendorff syndrome is a rare autosomal dominant disorder caused by loss of function in LEMD3, resulting in connective tissue nevi and varying bone dysplasia. Although typically benign, we describe a novel LEMD3 splice site mutation (IVS12 + 1delG) in a 13-year-old boy with Buschke-Ollendorff syndrome presenting with severe skeletal deformities, polyostotic melorheostosis, and osteopoikilosis.
September 2015: Pediatric Dermatology
https://www.readbyqxmd.com/read/25756180/a-genome-scan-for-selection-signatures-in-pigs
#12
Yunlong Ma, Julong Wei, Qin Zhang, Lei Chen, Jinyong Wang, Jianfeng Liu, Xiangdong Ding
Identifying signatures of selection can provide a straightforward insight into the mechanism of artificial selection and further uncover the causal genes related to the phenotypic variation. Based on Illumina Porcine60KSNP chip data, four complementary methods, Long-Range Haplotype (LRH), Tajima's D, Cross Population Extend Haplotype Homozygosity Test (XPEHH) and FST, were implemented in this study to detect the selection signatures in the whole genome of one typical Chinese indigenous breed, Rongchang, one Chinese cultivated breed, Songliao, and two western breeds, Landrace and Yorkshire...
2015: PloS One
https://www.readbyqxmd.com/read/25575356/melorheostosis-segmental-osteopoikilosis-or-a-separate-entity
#13
Muayad Kadhim, Matthew A Deardorff, Holly Dubbs, Elaine H Zackai, John P Dormans
PURPOSE: Melorheostosis is a progressive hyperostotic bone disease that commonly affects the appendicular skeleton. Melorheostosis has a significant degree of overlap with other hyperostosis conditions including osteopoikilosis and likely represent varying degrees of a clinical spectrum. METHODS: This is a report of 2 patients with melorheostosis who presented with different clinical presentations and involvement of different anatomic locations. RESULTS: One of the patients presented with foot size asymmetry along with intermittent foot pain and limping...
March 2015: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/25006967/genome-wide-scan-reveals-lemd3-and-wif1-on-ssc5-as-the-candidates-for-porcine-ear-size
#14
Longchao Zhang, Jing Liang, Weizhen Luo, Xin Liu, Hua Yan, Kebin Zhao, Huibi Shi, Yuebo Zhang, Ligang Wang, Lixian Wang
The quantitative trait loci (QTL) for porcine ear size was previously reported to mainly focus on SSC5 and SSC7. Recently, a missense mutation, G32E, in PPARD in the QTL interval on SSC7 was identified as the causative mutation for ear size. However, on account of the large interval of QTL, the responsible gene on SSC5 has not been identified. In this study, an intercross population was constructed from the large-eared Minzhu, an indigenous Chinese pig breed, and the Western commercial Large White pig to examine the genetic basis of ear size diversity...
2014: PloS One
https://www.readbyqxmd.com/read/24980784/wnt-signaling-pathway-pharmacogenetics-in-non-small-cell-lung-cancer
#15
D J Stewart, D W Chang, Y Ye, M Spitz, C Lu, X Shu, J A Wampfler, R S Marks, Y I Garces, P Yang, X Wu
Wingless-type protein (Wnt)/β-catenin pathway alterations in non-small cell lung cancer (NSCLC) are associated with poor prognosis and resistance. In 598 stage III-IV NSCLC patients receiving platinum-based chemotherapy at the MD Anderson Cancer Center (MDACC), we correlated survival with 441 host single-nucleotide polymorphisms (SNPs) in 50 Wnt pathway genes. We then assessed the most significant SNPs in 240 Mayo Clinic patients receiving platinum-based chemotherapy for advanced NSCLC, 127 MDACC patients receiving platinum-based adjuvant chemotherapy and 340 early stage MDACC patients undergoing surgery alone (cohorts 2-4)...
December 2014: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/24917176/ossifying-fibroma-in-buschke-ollendorff-syndrome
#16
Annelise L Dawson, Joshua M Schulman, Richard C Jordan, Jeffrey P North
Buschke-Ollendorff syndrome represents an autosomal dominant disorder characterized by connective tissue nevi and osteopoikilosis. Cutaneous lesions may contain either predominantly elastic fibers or predominantly collagen fibers or may show both connective tissue components. The disease results from mutations in LEMD3 (MAN1), which lead to enhanced transforming growth factor-β (TGF-β) signaling and resultant changes in fibroblast function. TGF-β alterations have been implicated in a number of fibrotic disorders, and it is therefore not surprising that a range of cutaneous and skeletal abnormalities have been associated with Buschke-Ollendorff syndrome...
September 2014: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/24906442/large-effect-pleiotropic-or-closely-linked-qtl-segregate-within-and-across-ten-us-cattle-breeds
#17
Mahdi Saatchi, Robert D Schnabel, Jeremy F Taylor, Dorian J Garrick
BACKGROUND: The availability of high-density SNP assays including the BovineSNP50 (50 K) enables the identification of novel quantitative trait loci (QTL) and improvement of the resolution of the locations of previously mapped QTL. We performed a series of genome-wide association studies (GWAS) using 50 K genotypes scored in 18,274 animals from 10 US beef cattle breeds with observations for twelve body weights, calving ease and carcass traits. RESULTS: A total of 159 large-effects QTL (defined as 1-Mb genome windows explaining more than 1% of additive genetic variance) were identified...
2014: BMC Genomics
https://www.readbyqxmd.com/read/23779087/inhibition-of-tgf-%C3%AE-signaling-at-the-nuclear-envelope-characterization-of-interactions-between-man1-smad2-and-smad3-and-ppm1a
#18
Benjamin Bourgeois, Bernard Gilquin, Carine Tellier-Lebègue, Cecilia Östlund, Wei Wu, Javier Pérez, Perla El Hage, François Lallemand, Howard J Worman, Sophie Zinn-Justin
Signaling by transforming growth factor-β (TGF-β) is critical for various developmental processes and culminates in the activation of the transcription factors Smad2 and Smad3. MAN1, an integral protein of the inner nuclear membrane, inhibits TGF-β signaling by binding to Smad2 and Smad3. Depletion of the gene LEMD3 encoding MAN1 leads to developmental anomalies in mice, and heterozygous loss-of-function mutations in LEMD3 in humans cause sclerosing bone dysplasia. We modeled the three-dimensional structure of the MAN1-Smad2 complex from nuclear magnetic resonance and small-angle x-ray scattering data...
June 18, 2013: Science Signaling
https://www.readbyqxmd.com/read/23704207/genome-wide-association-study-of-genetic-predictors-of-overall-survival-for-non-small-cell-lung-cancer-in-never-smokers
#19
Xifeng Wu, Liang Wang, Yuanqing Ye, Jeremiah A Aakre, Xia Pu, Gee-Chen Chang, Pan-Chyr Yang, Jack A Roth, Randolph S Marks, Scott M Lippman, Joe Y Chang, Charles Lu, Claude Deschamps, Wu-Chou Su, Wen-Chang Wang, Ming-Shyan Huang, David W Chang, Yan Li, V Shane Pankratz, John D Minna, Waun Ki Hong, Michelle A T Hildebrandt, Chao Agnes Hsiung, Ping Yang
To identify the genetic factors that influence overall survival in never smokers who have non-small cell lung carcinoma (NSCLC), we conducted a consistency meta-analysis study using genome-wide association approaches for overall survival in 327 never smoker patients with NSCLC from The University of Texas MD Anderson Cancer Center (Houston, TX) and 293 cases from the Mayo Clinic (Rochester, MN). We then conducted a two-pronged validation of the top 25 variants that included additional validation in 1,256 patients with NSCLC from Taiwan and assessment of expression quantitative trait loci (eQTL) and differential expression of genes surrounding the top loci in 70 tumors and matched normal tissues...
July 1, 2013: Cancer Research
https://www.readbyqxmd.com/read/22987822/12q14-microdeletion-associated-with-hmga2-gene-disruption-and-growth-restriction
#20
Fadel Alyaqoub, Robert E Pyatt, Andrea Bailes, Amanda Brock, Carol Deeg, Aimee McKinney, Caroline Astbury, Shalini Reshmi, Kate P Shane, Devon Lamb Thrush, Annemarie Sommer, Julie M Gastier-Foster
The 12q14 microdeletion syndrome is a rare condition that has previously been characterized by pre- and postnatal growth restriction, proportionate short stature, failure to thrive, developmental delay, and osteopoikilosis. Previously reported microdeletions within this region have ranged in size from 1.83 to 10.12 Mb with a proposed 2.61 Mb smallest region of overlap containing the LEMD3, HMGA2, and GRIP1 genes. Here, we report on the identification of a 12q14 microdeletion in a female child presenting with proportionate short stature, failure to thrive, and speech delay...
November 2012: American Journal of Medical Genetics. Part A
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