keyword
MENU ▼
Read by QxMD icon Read
search

LEMD3

keyword
https://www.readbyqxmd.com/read/27382493/mutation-in-lemd3-man1-associated-with-osteopoikilosis-and-late-onset-generalized-morphea-a-new-buschke-ollendorf-syndrome-variant
#1
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
#2
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...
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/21267005/the-12q14-microdeletion-syndrome-six-new-cases-confirming-the-role-of-hmga2-in-growth
#15
Sally Ann Lynch, Nicola Foulds, Ann-Charlotte Thuresson, Amanda L Collins, Göran Annerén, Bernt-Oves Hedberg, Carol A Delaney, James Iremonger, Caroline M Murray, John A Crolla, Colm Costigan, Wayne Lam, David R Fitzpatrick, Regina Regan, Sean Ennis, Freddie Sharkey
We report six patients with array deletions encompassing 12q14. Out of a total of 2538 array investigations carried out on children with developmental delay and dysmorphism in three diagnostic testing centres, six positive cases yielded a frequency of 1 in 423 for this deletion syndrome. The deleted region in each of the six cases overlaps significantly with previously reported cases with microdeletions of this region. The chromosomal range of the deletions extends from 12q13.3q15. In the current study, we report overlapping deletions of variable extent and size but primarily comprising chromosomal bands 12q13...
May 2011: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/20732851/buschke-ollendorff-syndrome-in-a-three-generation-family-influence-of-a-novel-lemd3-mutation-to-tropoelastin-expression
#16
Bettina Burger, Dov Hershkovitz, Margarita Indelman, Michal Kovac, Jörg Galambos, Peter Haeusermann, Eli Sprecher, Peter H Itin
Buschke-Ollendorff syndrome refers to the concomitant occurrence of connective tissue nevi, composed of elastic fibers in most cases, with osteopoikilosis. This autosomal dominant inherited disorder is caused by mutations in the gene LEMD3 on chromosome 12q14, which induces a rather heterogeneous clinical phenotype. Here, we report on the most proximal germline mutation found to date in the LEMD3 gene, p.Val94fs, in a three-generation Swiss family. Quantitative RNA analyses in affected and non-affected skin tissue from the proband demonstrate a comparable nonsense-mediated decay of mutant LEMD3 mRNA in both tissues; however, different levels of tropoelastin expression suggest that additional factors are involved in the development of the cutaneous lesions...
November 2010: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/20678097/buschke-ollendorff-syndrome-with-striking-phenotypic-variation-resulting-from-a-novel-c-2203c-t-nonsense-mutation-in-lemd3
#17
Manuela Yuste-Chaves, Javier Cañueto, Ángel Santos-Briz, Sara Ciria, Rogelio González-Sarmiento, Pablo Unamuno
The Buschke-Ollendorff syndrome (BOS) (MIM 166700) is a rare autosomal dominant disorder with highly variable expression that consists of multiple cutaneous elastic nevi and osteopoikilosis. It may exhibit clinical variations, and in some patients either skin or bone lesions may be absent. Recently it has been demonstrated that the heterozygous loss of function in LEMD3 can result in osteopoikilosis, BOS, and melorheostosis. We have studied three generations in a family with BOS with a variable phenotype. The genetic analyses revealed a heterozygous c...
July 2011: Pediatric Dermatology
https://www.readbyqxmd.com/read/20618940/osteopoikilosis-and-multiple-exostoses-caused-by-novel-mutations-in-lemd3-and-ext1-genes-respectively-coincidence-within-one-family
#18
Sevjidmaa Baasanjav, Aleksander Jamsheer, Mateusz Kolanczyk, Denise Horn, Tomasz Latos, Katrin Hoffmann, Anna Latos-Bielenska, Stefan Mundlos
BACKGROUND: Osteopoikilosis is a rare autosomal dominant genetic disorder, characterised by the occurrence of the hyperostotic spots preferentially localized in the epiphyses and metaphyses of the long bones, and in the carpal and tarsal bones 1. Heterozygous LEMD3 gene mutations were shown to be the primary cause of the disease 2. Association of the primarily asymptomatic osteopokilosis with connective tissue nevi of the skin is categorized as Buschke-Ollendorff syndrome (BOS) 3. Additionally, osteopoikilosis can coincide with melorheostosis (MRO), a more severe bone disease characterised by the ectopic bone formation on the periosteal and endosteal surface of the long bones 456...
2010: BMC Medical Genetics
https://www.readbyqxmd.com/read/20083694/buschke-ollendorff-syndrome-absence-of-lemd3-mutation-in-an-affected-family
#19
Michelle Yadegari, Michael P Whyte, Steven Mumm, Robert G Phelps, Alan Shanske, William G Totty, Steven R Cohen
BACKGROUND: Buschke-Ollendorff syndrome (BOS), an autosomal dominant disorder, features small, acquired, asymptomatic, symmetrical foci of osteosclerosis detected radiographically in epimetaphyseal bone (osteopoikilosis) (OPK) together with connective tissue nevi or juvenile elastomas. Heterozygous, loss-of-function, germline mutation in the LEMD3 gene (which encodes an inner nuclear membrane protein called LEMD3, or MAN1) has been repeatedly documented in patients with BOS or OPK. OBSERVATIONS: We describe a father and son with multiple yellowish papules and nodules coalescing into cobblestone nevoid plaques consistent with nevus elasticus...
January 2010: Archives of Dermatology
https://www.readbyqxmd.com/read/19862465/the-heterozygous-lemd3-gt-mouse-is-not-a-murine-model-for-osteopoikilosis-in-humans
#20
Annelies Dheedene, Steven Deleye, Jan Hellemans, Steven Staelens, Stefaan Vandenberghe, Geert Mortier
Osteopoikilosis and the Buschke-Ollendorff syndrome are skeletal dysplasias with hyperostotic lesions in the long bones. These disorders are caused by heterozygous loss-of-function mutations in the LEMD3 gene. LEMD3 codes for a protein of the inner nuclear membrane that, through interaction with R-SMADs, antagonizes the BMP and TGF beta 1 pathway. It is suggested that the hyperostotic lesions in these disorders are caused by enhanced BMP and TGFbeta1 signaling. The exact mechanism by which mutations in the LEMD3 gene lead to these bone lesions has not yet been unraveled precisely...
December 2009: Calcified Tissue International
keyword
keyword
27379
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"