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https://www.readbyqxmd.com/read/29145636/localization-and-functional-characterization-of-the-p-asn965ser-n965s-abca4-variant-in-mice-reveal-pathogenic-mechanisms-underlying-stargardt-macular-degeneration
#1
Laurie L Molday, Daniel Wahl, Marinko Sarunic, Robert S Molday
ABCA4 is a member of the superfamily of ATP-binding cassette (ABC) proteins that transports N-retinylidene-phosphatidylethanolamine (N-Ret-PE) across outer segment disc membranes thereby facilitating the removal of potentially toxic retinoid compounds from photoreceptor cells. Mutations in the gene encoding ABCA4 are responsible for Stargardt disease (STGD1), an autosomal recessive retinal degenerative disease that causes severe vision loss. To define the molecular basis for STGD1 associated with the p.Asn965Ser (N965S) mutation in the Walker A motif of nucleotide binding domain 1 (NBD1), we generated a p...
November 14, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29145570/tooth-wear-and-gingival-recession-in-210-orthodontically-treated-patients-a-retrospective-cohort-study
#2
Marco Mijuskovic, Meret C Gebistorf, Nikolaos Pandis, Anne M Renkema, Piotr S Fudalej
Aim: To assess the association between tooth wear (TW) and gingival recession (GR). Materials and Methods: Two hundred and ten orthodontically treated participants (100 males) were evaluated. GR and TW were rated independently by four raters on plaster models at four time points: before treatment (T1), mean age 13.8 years (SD = 3.7); after treatment (T2), mean age 16.7 years (SD = 3.9); 3 years after treatment (T3), mean age 19.7 years (SD = 4.2); and 7 years after treatment (T4), mean age 23...
November 14, 2017: European Journal of Orthodontics
https://www.readbyqxmd.com/read/29145426/buserelin-alleviates-chloride-transport-defect-in-human-cystic-fibrosis-nasal-epithelial-cells
#3
Marie-Laure Calvez, Nathalie Benz, Florentin Huguet, Aude Saint-Pierre, Elise Rouillé, Christelle Coraux, Claude Férec, Mathieu Kerbiriou, Pascal Trouvé
Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians caused by mutations in the gene encoding the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) chloride (Cl-) channel regulated by protein kinases, phosphatases, divalent cations and by protein-protein interactions. Among protein-protein interactions, we previously showed that Annexin A5 (AnxA5) binds to CFTR and is involved in the channel localization within membranes and in its Cl- channel function. The deletion of phenylalanine at position 508 (F508del) is the most common mutation in CF which leads to an altered protein (F508del-CFTR) folding with a nascent protein retained within the ER and is quickly degraded...
2017: PloS One
https://www.readbyqxmd.com/read/29145301/sinonasal-osteoblastomas-in-the-middle-turbinate-two-case-reports
#4
Jong Seung Kim, Sam Hyun Kwon
RATIONALE: Sinonasal osteoblastoma is an extremely rare benign bone-forming tumor. PATIENT CONCERNS: We report 2 extremely rare cases of sinonasal osteoblastoma in the middle turbinate. DIAGNOSES: The preoperative diagnosis was osteoma in the middle turbinate. INTERVENTIONS: We performed endoscopic removal of the mass in the middle turbinate and frontal recess. OUTCOMES: Histological examination of biopsy specimens revealed osteoblastoma...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29145255/functional-polymorphism-rs3783553-in-the-3-untranslated-region-of-il-1a-increased-the-risk-of-ischemic-stroke-a-case-control-study
#5
Peng Wang, Qian He, Chen Liu, Shi Zhen He, Shou Yan Zhu, Ying Wen Li, Wei Su, Shu Tian Xiang, Bo Zhao
Accumulating evidence indicates interleukin-1 (IL-1) is a critical mediator of inflammatory responses in ischemic stroke (IS). The aim of this study was to investigate whether rs3783553 in the 3'-untranslated region of IL-1A was associated with the risk of IS. In this hospital-based case-control study, we genotyped the rs3783553 using polymerase chain reaction in 316 patients with IS and 332 age, sex, and ethnicity-matched controls. Plasma level of IL-1α was measured by enzyme-linked immunosorbent assay. The relative luciferase activities were measured by the Dual Luciferase assay system...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29144512/ashkenazi-jewish-genomic-variants-integrating-data-from-the-israeli-national-genetic-database-and-gnomad
#6
Joël Zlotogora, George P Patrinos, Vardiella Meiner
PurposeThe aim of the study was to compare the data for mutations related to clinical disorders reported among Ashkenazi Jewish patients in the Israeli National Genetic Database (INGD) with variants included in the Genome Aggregation Database (gnomAD).MethodsWe extracted data for mutations claimed to cause disorders reported among Ashkenazi Jews from the INGD and searched gnomAD for each of them. We compared the allele frequency of each variant in Ashkenazi Jews with that of other delineated populations.ResultsOf the 58 INGD-reported mutations related to autosomal-dominant disorders, 19 were present in gnomAD (32...
November 16, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29144034/considerations-in-surgical-management-of-a-buschke-lowenstein-tumor-in-netherton-syndrome-a-case-report
#7
Rosalind Ashton, Jamil Moledina, Branavan Sivakumar, Jemima E Mellerio, Anna E Martinez
Netherton syndrome is an autosomal recessive ichthyosis caused by mutations in SPINK5, with the classic triad of linearis circumflexa, trichorrhexis invaginata, and atopy. There are few reports of surgical management in individuals with Netherton syndrome and clinicians may be reluctant to operate for fear of wound-healing complications. This report describes a pediatric case of a Buschke-Lowenstein tumor of the natal cleft in a patient with Netherton syndrome that had failed to respond to medical management...
November 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/29143991/genetic-and-non-genetic-risk-factors-for-pre-eclampsia-an-umbrella-review-of-systematic-reviews-and-meta-analyses-of-observational-studies
#8
REVIEW
Konstantinos Giannakou, Evangelos Evangelou, Stefania I Papatheodorou
OBJECTIVE: To summarize evidence from the literature on the risk factors associated with preeclampsia, assess the presence of statistical biases and identify associations with robust evidence. METHODS: We searched PubMed and ISI Web of Science from inception to October, 2016, to identify systematic reviews and meta-analyses of observational studies examining associations between genetic and non-genetic risk factors for preeclampsia. For each meta-analysis we estimated the summary effect size by random-effects and fixed-effects models, the 95% confidence interval and the 95% prediction interval...
November 16, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29143603/evolution-of-vrn-1-homoeologous-loci-in-allopolyploids-of-triticum-and-their-diploid-precursors
#9
REVIEW
Andrey B Shcherban, Elena A Salina
BACKGROUND: The key gene in genetic system controlling the duration of the vegetative period in cereals is the VRN1 gene, whose product under the influence of low temperature (vernalization) promotes the transition of the apical meristem cells into a competent state for the development of generative tissues of spike. As early genetic studies shown, the dominant alleles of this gene underlie the spring forms of plants that do not require vernalization for this transition. In wheat allopolyploids various combinations of alleles of the VRN1 homoeologous loci (VRN1 homoeoalleles) provide diversity in such important traits as the time to heading, height of plants and yield...
November 14, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/29142767/could-congenital-insensitivity-to-pain-with-anhidrosis-be-misdiagnosed-as-papillon-lef%C3%A3-vre-syndrome
#10
Mostafa Ibrahim Mostafa, Maha Rashed Abouzaid, Manal Micheal Thomas, Ghada Yousef El-Kamah
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder characterized by early loss of teeth with hyperkeratosis of the palms and soles. Congenital insensitivity to pain with anhidrosis (CIPA) is a disorder of decreased pain sensation, decreased sweating, recurrent infections, and fever. Here, we report a 5-year-old girl born to consanguineous parents with a family history of a similarly affected sibling. The girl presented with early loss of teeth and palmoplantar hyperkeratosis, hence, provisionally diagnosed as PLS...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142764/determining-nt-probnp-levels-with-diastolic-dysfunction-in-thalassemia-major-patients
#11
Mable Misha Singh, Ravindra Kumar, Satyendra Tewari, Sarita Agarwal
Beta thalassemia is an autosomal, recessive disorder, characterized by ineffective erythropoiesis. Chronic transfusions and inability of body to eliminate iron lead to an iron overload, thereby causing damage to heart. Natriuretic peptides (NPs) are produced within the heart, which are then released into the circulation in response to ventricular wall stress. We, therefore, aimed to study the relation between ventricular dysfunction and N-terminal pro-B-type natriuretic peptides (NT-proBNPs). We enrolled 105 patients with increased serum ferritin levels and echocardiography was performed...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142762/analysis-of-cyp1b1-gene-mutations-in-patients-with-primary-congenital-glaucoma
#12
REVIEW
Leila Chouiter, Sellama Nadifi
Primary congenital glaucoma (PCG) is the most common type of infantile glaucoma, yet it remains a relatively rare disease, because the disease is often transmitted in an autosomal recessive pattern. However, PCG occurs up to 10 times more frequently in certain ethnic and geographical groups where consanguineous relationships are common. The aim of this study was to investigate the distribution of mutations in the cytochrome P450 1B1 gene ( CYP1B1 ) in patients with PCG among different populations around the world from 2011 until May 2016...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142006/characterization-of-neuroendocrine-tumors-in-heterozygous-mutant-menx-rats-a-novel-model-of-invasive-medullary-thyroid-carcinoma
#13
Sara Molatore, Andrea Kügler, Martin Irmler, Tobias Wiedemann, Frauke Neff, Annette Feuchtinger, Johannes Beckers, Mercedes Robledo, Frederico Roncaroli, Natalia S Pellegata
Rats affected by the MENX syndrome spontaneously develop multiple neuroendocrine tumors (NETs) including adrenal, pituitary and thyroid gland neoplasms. MENX was initially reported to be inherited as a recessive trait and affected rats were found to be homozygous for the predisposing Cdkn1b mutation encoding p27. We here report that heterozygous MENX mutant rats (p27+/mut) develop the same spectrum of NETs seen in the homozygous (p27mut/mut) animals but with slower progression. Consequently, p27+/mut rats have a significantly shorter lifespan compared with their wild-type (p27+/+) littermates...
November 15, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29141798/ecotropic-viral-integration-site-5-evi5-variants-are-associated-with-multiple-sclerosis-in-iranian-population
#14
Mehrdokht Mazdeh, Soudeh Ghafouri-Fard, Rezvan Noroozi, Arezou Sayad, Maryam Khani, Mohammad Taheri, Mir Davood Omrani
BACKGROUND: Multiple sclerosis (MS) is a multifactorial disorder with immunological basis. Numerous genetic and environmental factors contribute in its pathogenesis. Several genetic loci have been shown to be associated with MS risk. Among genes whose participation in MS has been evaluated is Ecotropic Viral Integration Site 5 (EVI5). EVI5 is a common site of retroviral integration with a possible role in T-cell lymphomagenesis. METHODS: In the current study, we aimed to confirm association of the single nucleotide polymorphisms (SNPs) within EVI5 gene with MS in 410 relapsing-remitting MS patients and 410 controls from Iranian population...
November 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29141605/an-intronic-single-nucleotide-polymorphism-rs13217795-in-foxo3-is-associated-with-asthma-and-allergic-rhinitis-a-case-case-control-study
#15
Justin Z Amarin, Randa G Naffa, Haya H Suradi, Yousof M Alsaket, Nathir M Obeidat, Tareq M Mahafza, Malek A Zihlif
BACKGROUND: Asthma and allergic rhinitis are respiratory diseases with a significant global burden. Forkhead box O3 (FOXO3) is a gene involved in the etiology of a number of respiratory diseases. The objective of this study is to assess the association of rs13217795, an intronic FOXO3 single-nucleotide polymorphism, with asthma and allergic rhinitis. METHODS: In this case-case-control genetic association study, genotyping was conducted using the PCR-RFLP method...
November 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29141579/a-missense-variant-in-the-coil1a-domain-of-the-keratin-25-gene-is-associated-with-the-dominant-curly-hair-coat-trait-crd-in-horse
#16
Caroline Morgenthaler, Mathieu Diribarne, Aurélien Capitan, Rachel Legendre, Romain Saintilan, Maïlys Gilles, Diane Esquerré, Rytis Juras, Anas Khanshour, Laurent Schibler, Gus Cothran
BACKGROUND: Curly horses present a variety of curl phenotypes that are associated with various degrees of curliness of coat, mane, tail and ear hairs. Their origin is still a matter of debate and several genetic hypotheses have been formulated to explain the diversity in phenotype, including the combination of autosomal dominant and recessive alleles. Our purpose was to map the autosomal dominant curly hair locus and identify the causal variant using genome-wide association study (GWAS) and whole-genome sequencing approaches...
November 15, 2017: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/29141249/%C3%AE-catenin-cooperates-with-creb-binding-protein-to-promote-the-growth-of-tumor-cells
#17
Wendan Yu, Liren Li, Fufu Zheng, Wenjing Yang, Shilei Zhao, Chunfang Tian, Wenwen Yin, Yiming Chen, Wei Guo, Lijuan Zou, Wuguo Deng
BACKGROUND/AIMS: β-catenin is an integral component of the canonical Wnt signaling pathway, and its mutations are an autosomal recessive cause of colorectal cancer (CRC), medulloblastoma (MDB), and ovarian cancer. Nevertheless, little is known about its function in lung cancers. METHODS: We first knocked down β-catenin by siRNA to investigate its effects on lung cancer cell proliferation, migration and apoptosis. Then we verified the interaction between β-catenin and CREB binding protein (CBP) by immunofluoresence and co-immunoprecipition assays...
November 15, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29140751/further-delineation-of-the-oculoauricular-syndrome-phenotype-a-new-family-with-a-novel-truncating-hmx1-mutation
#18
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Mennat I Mehrez, Ahmad M Kamal, Mohamed B Taher, Hanan H Afifi
Biallelic HMX1 mutations cause a very rare autosomal recessive genetic disorder termed as oculoauricular syndrome (OAS) because it is characterized only by the combination of eye and ear anomalies. We identified a new family bringing to three the total families reported with this disorder. Our proband presented with anteriorly protruded ears and malformed ear pinnae in association with microphthalmia, congenital cataract, microcornea, and iris and optic disc colobomata. Additionally, he had high and broad forehead with asymmetry giving a recognizable facial gestalt...
November 15, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29140415/apobec3a-b-deletion-polymorphism-and-cancer-risk
#19
Liv B Gansmo, Paal Romundstad, Kristian Hveem, Lars Vatten, Serena Nik-Zainal, Per Eystein Lønning, Stian Knappskog
Activity of the APOBEC enzymes has been linked to specific mutational processes in human cancer genomes. A germline APOBEC3A/B deletion polymorphism is associated with APOBEC-dependent mutational signatures, and the deletion allele has been reported to confer an elevated risk of some cancers in Asian populations, while the results in European populations, so far, have been conflicting. We genotyped the APOBEC3A/B deletion polymorphism in a large population based sample consisting of 11,106 Caucasian (Norwegian) individuals, including 7,279 incident cancer cases (1,769 breast- , 1,360 lung-, 1,585 colon-, and 2,565 prostate cancer) and a control group of 3,827 matched individuals without cancer (1,918 females and 1,909 males) from the same population...
November 13, 2017: Carcinogenesis
https://www.readbyqxmd.com/read/29140387/full-mouth-rehabilitation-with-calvarium-bone-grafts-and-dental-implants-for-a-papillon-lef%C3%A3-vre-syndrome-patient-case-report
#20
Bassam M Kinaia, Kristyn Hope, Ahmed Zuhaili, Jean Francois Tulasne
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder of keratinization associated with palmoplantar keratoderma and severe periodontitis resulting in complete edentulism in late adolescence. The pathognomonic dental features of PLS are pathologic migration, hypermobility, and exfoliation of the teeth without any signs of root resorption. It has been suggested that an effective way to treat PLS patients presenting early in the disease progression is extraction of the erupted primary dentition or hopeless permanent teeth followed by antibiotic coverage with periodontal therapy for the remaining teeth...
November 2017: International Journal of Oral & Maxillofacial Implants
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