keyword
MENU ▼
Read by QxMD icon Read
search

LEMD3

keyword
https://www.readbyqxmd.com/read/29104755/combined-approach-for-finding-susceptibility-genes-in-dish-chondrocalcinosis-families-whole-genome-wide-linkage-and-ibs-ibd-studies
#1
Ana Rita Couto, Bruna Parreira, Russell Thomson, Marta Soares, Deborah M Power, Jim Stankovich, Jácome Bruges Armas, Matthew A Brown
Twelve families with exuberant and early-onset calcium pyrophosphate dehydrate chondrocalcinosis (CC) and diffuse idiopathic skeletal hyperostosis (DISH), hereafter designated DISH/CC, were identified in Terceira Island, the Azores, Portugal. Ninety-two (92) individuals from these families were selected for whole-genome-wide linkage analysis. An identity-by-descent (IBD) analysis was performed in 10 individuals from 5 of the investigated pedigrees. The chromosome area with the maximal logarithm of the odds score (1...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/29023873/juvenile-elastoma-without-germline-mutations-in-lemd3-gene-a-case-of-buschke-ollendorff-syndrome
#2
Alessandra Condorelli, Nicolo Musso, Laura Scuderi, Daniele F Condorelli, Vincenza Barresi, Rocco De Pasquale
We report the case of a 6-year-old Caucasian girl with clinical and histopathologic features of Buschke-Ollendorff syndrome. Histologic examination of skin lesions showed thick, curly, elastic fibers in the derma. Bone lesions compatible with Buschke-Ollendorff syndrome were found in the girl's mother. Mutations in LEMD3 are pathogenic for Buschke-Ollendorff syndrome. Analysis of all exons and exon-intron junctions of LEMD3 did not reveal any germline mutations.
October 10, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28840995/novel-4-bp-intronic-deletion-c-1560-3_1560-6del-in-lemd3-in-a-korean-patient-with-osteopoikilosis
#3
In Young Yoo, Ju Sun Song, Chang Seok Ki, Jong Won Kim, Hoon Suk Cha, Yong Ki Min
Osteopoikilosis is an autosomal dominant bone disorder characterized by symmetric multiple osteosclerotic lesions throughout the axial and appendicular skeleton. Pathogenic variants in the LEMD3 have been identified as the cause of osteopoikilosis. LEMD3 encodes an inner nuclear membrane protein that interacts with bone morphogenetic protein (BMP) and transforming growth factor (TGF)-β pathways. We report the case of a 19-year-old man presenting with lower back pain and sciatica. His radiograph revealed bilateral and symmetrical multiple osteosclerotic bone lesions in both scapular areas...
November 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28684548/lem-domain-proteins-are-lost-during-human-spermiogenesis-but-baf-and-baf-l-persist
#4
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
#5
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...
August 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28434888/melorheostosis-exome-sequencing-of-an-associated-dermatosis-implicates-postzygotic-mosaicism-of-mutated-kras
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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"