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https://www.readbyqxmd.com/read/28649662/the-contribution-of-pathogenic-variants-in-breast-cancer-susceptibility-genes-to-familial-breast-cancer-risk
#1
Thomas P Slavin, Kara N Maxwell, Jenna Lilyquist, Joseph Vijai, Susan L Neuhausen, Steven N Hart, Vignesh Ravichandran, Tinu Thomas, Ann Maria, Danylo Villano, Kasmintan A Schrader, Raymond Moore, Chunling Hu, Bradley Wubbenhorst, Brandon M Wenz, Kurt D'Andrea, Mark E Robson, Paolo Peterlongo, Bernardo Bonanni, James M Ford, Judy E Garber, Susan M Domchek, Csilla Szabo, Kenneth Offit, Katherine L Nathanson, Jeffrey N Weitzel, Fergus J Couch
Understanding the gene-specific risks for development of breast cancer will lead to improved clinical care for those carrying germline mutations in cancer predisposition genes. We sought to detail the spectrum of mutations and refine risk estimates for known and proposed breast cancer susceptibility genes. Targeted massively-parallel sequencing was performed to identify mutations and copy number variants in 26 known or proposed breast cancer susceptibility genes in 2134 BRCA1/2-negative women with familial breast cancer (proband with breast cancer and a family history of breast or ovarian cancer) from a largely European-Caucasian multi-institutional cohort...
2017: NPJ Breast Cancer
https://www.readbyqxmd.com/read/28642160/a-novel-missense-variant-gln220arg-of-gnb4-encoding-guanine-nucleotide-binding-protein-subunit-beta-4-in-a-japanese-family-with-autosomal-dominant-motor-and-sensory-neuropathy
#2
Shiroh Miura, Takuya Morikawa, Ryuta Fujioka, Kazuhito Noda, Kengo Kosaka, Takayuki Taniwaki, Hiroki Shibata
Dominant intermediate Charcot-Marie-Tooth disease F (CMTDIF) is an autosomal dominant hereditary form of Charcot-Marie-Tooth disease (CMT) caused by variations in the guanine nucleotide-binding protein, subunit beta-4 gene (GNB4). We examined two Japanese familial cases with CMT. Case 1 was a 49-year-old male whose chief complaint was slowly progressive gait disturbance and limb dysesthesia that appeared at the age of 47. On neurological examination, he showed hyporeflexia or areflexia, distal limb muscle weakness, and distal sensory impairment with lower dominancy...
June 19, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28639572/relation-of-biochemical-parameters-with-flow-mediated-dilatation-in-patients-with-metabolic-syndrome
#3
Nurver Turfaner Sipahioglu, Barıs Ilerigelen, Zeynep B Gungor, Gulsel Ayaz, Hakan Ekmekci, Cigdem Bayram Gurel, Gunay Can, Huseyin Sonmez, Turgut Ulutin, Fikret Sipahioglu
BACKGROUND: Metabolic syndrome (MetS) is one of the high cardiovascular (CV) situations. Endothelial dysfunction, which is a common finding in patients with MetS, is related with increased CV risk. In patients with MetS, the effect of the major CV risk factors, not included in the MetS definition, on endothelial dysfunction is not well known. The aim of this study was to determine the effect of major CV risk factors such as gender, smoking, family history, and biochemical parameters on endothelial dysfunction in patients with MetS...
July 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28638507/the-impact-of-using-mean-versus-mode-when-assessing-resident-competency
#4
Patrick B Barlow, Kate DuChene Thoma, Kristi J Ferguson
BACKGROUND: The Accreditation Council for Graduate Medical Education Milestone Project was implemented in 2014 to standardize assessments and progression of residents. While it is recommended that milestones not be used as tools for direct assessments of resident competency, many programs have used or adapted milestone tools for this purpose. OBJECTIVE: We sought to explore use of the most frequent milestone level at which a resident was evaluated (ie, the mode), and compared this to the standard practice of using the arithmetic mean for summarizing performance...
June 2017: Journal of Graduate Medical Education
https://www.readbyqxmd.com/read/28634189/reduced-platelet-count-but-no-major-platelet-function-abnormalities-are-associated-with-loss-of-function-atp-binding-cassette-1-abca1-gene-mutations
#5
Pietro Minuz, Alessandra Meneguzzi, Eti Alessandra Femia, Cristiano Fava, Stefano Calabria, Mariangela Scavone, Donatella Benati, Giovanni Poli, Carlo Zancanaro, Sebastiano Calandra, Tiziano Lucchi, Marco Cattaneo
Loss of function mutations of the the ATP-binding cassette-1 (ABCA1) gene are the cause of Tangier disease (TD) in homozygous subjects and familial HDL deficiency (FHD) in heterozygous subjects. These disorders are characterized by reduced plasma HDL-cholesterol and altered efflux of cholesterol from cells. Previous studies in TD patients and ABCA1(-/-) murine models reported defects in platelet count, morphology and function, but the issue is still controversial. We analysed three subjects with low to very low HDL cholesterol levels due to loss of function mutations of the ABCA1 gene...
June 20, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28625779/multiple-isoforms-of-nesprin1-are-integral-components-of-ciliary-rootlets
#6
Chloe Potter, Wanqiu Zhu, David Razafsky, Philip Ruzycki, Alexander V Kolesnikov, Teresa Doggett, Vladimir J Kefalov, Ewelina Betleja, Moe R Mahjoub, Didier Hodzic
SYNE1 (synaptic nuclear envelope 1) encodes multiple isoforms of Nesprin1 (nuclear envelope spectrin 1) that associate with the nuclear envelope (NE) through a C-terminal KASH (Klarsicht/Anc1/Syne homology) domain (Figure 1A) [1-4]. This domain interacts directly with the SUN (Sad1/Unc84) domain of Sun proteins [5-7], a family of transmembrane proteins of the inner nuclear membrane (INM) [8, 9], to form the so-called LINC complexes (linkers of the nucleoskeleton and cytoskeleton) that span the entire NE and mediate nuclear positioning [10-12]...
June 9, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28625364/semi-quantitative-models-for-identifying-potent-and-selective-transthyretin-amyloidogenesis-inhibitors
#7
Stephen Connelly, David E Mortenson, Sungwook Choi, Ian A Wilson, Evan T Powers, Jeffery W Kelly, Steven M Johnson
Rate-limiting dissociation of the tetrameric protein transthyretin (TTR), followed by monomer misfolding and misassembly, appears to cause degenerative diseases in humans known as the transthyretin amyloidoses, based on human genetic, biochemical and pharmacologic evidence. Small molecules that bind to the generally unoccupied thyroxine binding pockets in the native TTR tetramer kinetically stabilize the tetramer, slowing subunit dissociation proportional to the extent that the molecules stabilize the native state over the dissociative transition state-thereby inhibiting amyloidogenesis...
May 26, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28625118/sexual-behaviors-and-sexually-transmitted-infections-among-male-veterans-and-nonveterans
#8
Mark W Evans, Sonya Borrero, Jonathan Yabes, Elian A Rosenfeld
Little is known about the sexual health of male veterans. This study used nationally representative data from the 2011 to 2013 National Survey of Family Growth to compare sexual behaviors and history of sexually transmitted infections (STIs) between male veterans and nonveterans. The sample included 3,860 men aged 18 to 44 years who reported ever having sex with a man or woman. The key independent variable was veteran status. Sexual behavior outcomes included ≥6 lifetime female partners, ≥10 lifetime partners of either sex, ≥2 past-year partners of either sex, having past-year partners of both sexes, and condom nonuse at last vaginal sex...
July 2017: American Journal of Men's Health
https://www.readbyqxmd.com/read/28624352/pressure-effects-on-%C3%AE-synuclein-amyloid-fibrils-an-experimental-investigation-on-their-dissociation-and-reversible-nature
#9
Federica Piccirilli, Nicoletta Plotegher, Francesco Spinozzi, Luigi Bubacco, Paolo Mariani, Mariano Beltramini, Isabella Tessari, Valeria Militello, Andrea Perucchi, Heinz Wilfried Amenitsch, Enrico Baldassarri, Milos Steinhart, Stefano Lupi, Maria Grazia Ortore
α-synuclein amyloid fibrils are found in surviving neurons of Parkinson's disease affected patients, but the role they play in the disease development is still under debate. A growing number of evidences points to soluble oligomers as the major cytotoxic species, while insoluble fibrillar aggregates could even play a protection role. In this work, we investigate α-synuclein fibrils dissociation induced at high pressure by means of Small Angle X-ray Scattering and Fourier Transform Infrared Spectroscopy. Fibrils were produced from wild type α-synuclein and two familial mutants, A30P and A53T...
June 14, 2017: Archives of Biochemistry and Biophysics
https://www.readbyqxmd.com/read/28623779/the-honest-truth-about-deception-demographic-cognitive-and-neural-correlates-of-child-repeated-deceptive-behavior
#10
Sandra Thijssen, Andrea Wildeboer, Marinus H van IJzendoorn, Ryan L Muetzel, Sandra J E Langeslag, Vincent W V Jaddoe, Frank C Verhulst, Henning Tiemeier, Marian J Bakermans-Kranenburg, Tonya White
This study examined situational, psychological, and neurobiological factors associated with deceptive behavior in 8-year-old children. By assessing deception in low- and high-risk conditions, we differentiated between children displaying some dishonesty and children who deceived repeatedly, and we assessed the correlates of deception in 163 children. A large majority of the children were deceptive in the low-risk condition (n=121, 74.2%), but most children refrained from deception when at risk for getting caught (69 of 121)...
June 14, 2017: Journal of Experimental Child Psychology
https://www.readbyqxmd.com/read/28623368/regulation-of-sub-compartmental-targeting-and-folding-properties-of-the-prion-like-protein-shadoo
#11
Anna Pepe, Rosario Avolio, Danilo Swann Matassa, Franca Esposito, Lucio Nitsch, Chiara Zurzolo, Simona Paladino, Daniela Sarnataro
Shadoo (Sho), a member of prion protein family, has been shown to prevent embryonic lethality in Prnp (0/0) mice and to be reduced in the brains of rodents with terminal prion diseases. Sho can also affect PrP structural dynamics and can increase the prion conversion into its misfolded isoform (PrP(Sc)), which is amyloidogenic and strictly related to expression, intracellular localization and association of PrP(C) to lipid rafts. We reasoned that if Sho possesses a natural tendency to convert to amyloid-like forms in vitro, it should be able to exhibit "prion-like" properties, such as PK-resistance and aggregation state, also in live cells...
June 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28623091/dna-repair-and-systemic-lupus-erythematosus
#12
REVIEW
Rithy Meas, Matthew J Burak, Joann B Sweasy
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with no known cure that affects at least five million people worldwide. Monozygotic twin concordance and familial aggregation studies strongly suggest that lupus results from genetic predisposition along with environmental exposures including UV light. The majority of the common risk alleles associated with genetic predisposition to SLE map to genes associated with the immune system. However, evidence is emerging that implicates a role for aberrant DNA repair in the development of lupus...
June 9, 2017: DNA Repair
https://www.readbyqxmd.com/read/28623070/commentary-on-inherited-dna-repair-gene-mutations-in-men-with-metastatic-prostate-cancer-pritchard-cc-mateo-j-walsh-mf-de-sarkar-n-abida-w-beltran-h-garofalo-a-gulati-r-carreira-s-eeles-r-elemento-o-rubin-ma-robinson-d-lonigro-r-hussain-m-chinnaiyan-a-vinson
#13
Stephen J Freedland, William J Aronson
BACKGROUND: Inherited mutations in DNA-repair genes such as BRCA2 are associated with increased risks of lethal prostate cancer. Although the prevalence of germline mutations in DNA-repair genes among men with localized prostate cancer who are unselected for family predisposition is insufficient to warrant routine testing, the frequency of such mutations in patients with metastatic prostate cancer has not been established. METHODS: We recruited 692 men with documented metastatic prostate cancer who were unselected for family history of cancer or age at diagnosis...
June 13, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28622977/evolution-of-the-%C3%AE-2-adrenoreceptors-in-vertebrates-adra2d-is-absent-in-mammals-and-crocodiles
#14
Héctor A Céspedes, Kattina Zavala, Michael W Vandewege, Juan C Opazo
Evolutionary studies of genes that have been functionally characterized and whose variation has been associated with pathological conditions represent an opportunity to understand the genetic basis of pathologies. α2-Adrenoreceptors (ADRA2) are a class of G protein-coupled receptors that regulate several physiological processes including blood pressure, platelet aggregation, insulin secretion, lipolysis, and neurotransmitter release. This gene family has been extensively studied from a molecular/physiological perspective, yet much less is known about its evolutionary history...
June 13, 2017: General and Comparative Endocrinology
https://www.readbyqxmd.com/read/28622295/high-autophagic-flux-guards-esc-identity-through-coordinating-autophagy-machinery-gene-program-by-foxo1
#15
Pinglei Liu, Kun Liu, Haifeng Gu, Weixu Wang, Jiaqi Gong, Yingjie Zhu, Qian Zhao, Jiani Cao, Chunseng Han, Fei Gao, Quan Chen, Wei Li, Jianwei Jiao, Baoyang Hu, Qi Zhou, Tongbiao Zhao
Although much is known about transcriptional networks that control embryonic stem cell (ESC) self-renewal and differentiation, the metabolic regulation of ESC is less clear. Autophagy is a catabolic process that is activated under both stress and normal conditions to degrade damaged organelles and aggregated proteins, and thus plays pivotal roles in somatic and adult stem cell function. However, if and how ESCs harness autophagy to regulate stemness remains largely unknown. Recently, we have defined that autophagy is essential for mitochondrial homeostasis regulation in pluripotency acquirement and maintenance...
June 16, 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/28621431/adhesion-molecule-kirrel3-neph2-is-required-for-the-elongated-shape-of-myocytes-during-skeletal-muscle-differentiation
#16
Yael Tamir-Livne, Raeda Mubariki, Eyal Bengal
Kirrel/Neph proteins are evolutionarily conserved members of the immunoglobulin superfamily of adhesion proteins. Kirrel3 is the mouse orthologue of Dumbfounded (Duf), a family member that regulates myoblast pre-fusion events in Drosophila. Yet, the role of Kirrel3 in mammalian myogenesis has not been demonstrated. Experiments performed here indicate that the mouse Kirrel3 protein regulates morphological changes of myoblasts that are required for their subsequent fusion into multinucleated myotubes. We show that Kirrel3 is transiently expressed at the tips of myocytes during early myoblast differentiation and that its expression is dependent on the myogenic transcription factor, MyoD...
2017: International Journal of Developmental Biology
https://www.readbyqxmd.com/read/28620136/pnma5-is-essential-to-the-progression-of-meiosis-in-mouse-oocytes-through-a-chain-of-phosphorylation
#17
Xiao-Lan Zhang, Peng Liu, Zhi-Xia Yang, Jing-Jing Zhao, Lei-Lei Gao, Bo Yuan, Li-Ya Shi, Chun-Xiang Zhou, Hai-Feng Qiao, Ya-Hong Liu, Xiao-Yan Ying, Jun-Qiang Zhang, Xiu-Feng Ling, Dong Zhang
PNMA (paraneoplastic antigen MA) family includes Pnma1-6. Although other members have been found to be involved in paraneoplastic neurological disorders, death receptor-dependent apoptosis, and tumorigenesis, Pnma5 was thought to be a female fertility factor, as indicated by one genome-wide study. But until now there have not been any further functional studies about Pnma5 in female meiosis. Our preliminary study indicated that Pnma5 might play important roles in meiosis. To further address this, Pnma5 was knocked down in in-vitro maturated (IVM) mouse oocytes, which are common models for mammalian female meiosis, by specific siRNA, and results showed that the loss of Pnma5 significantly delayed the progression of meiosis I and increased chromosome segregation errors during anaphase I...
June 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28612525/-the-role-of-dna-double-strain-damage-repairing-mechanisms-in-diabetic-atheroscolersis
#18
Li Zeng, Qun-Fang Ding, Ting-Yuan Xu, Fang Luo, Ning Ge, Shi-Tong Li
OBJECTIVES: To identify the role of DNA double-strain damage repairing pathway in the development of diabetics atherosclerosis. METHODS: Wistar male rats were randomly divided into three groups: control group (group A), balloon injury group (group B) and diabetes + balloon injury group (group C). Streptozotocin (STZ) was injected into rat abdomen to induce diabetes. After stabilizing high glucose, rats in group B and group C were both under aortic balloon injury technique and fed high lipid forage post-operatively...
March 2017: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/28611552/a-novel-mutation-in-pitx2-in-a-patient-with-axenfeld-rieger-syndrome
#19
Susan J Hassed, Shibo Li, Weihong Xu, Ashley C Taylor
Axenfeld-Rieger syndrome is a rare autosomal dominant condition. Anomalies include anterior segment dysgenesis of the eye, dental anomalies, maxillary hypoplasia, periumbilical anomalies, and congenital heart defects. We report a patient with Peters anomaly, dysmorphic features, congenital heart defect, umbilical hernia, short stature, and developmental delay. Diagnostic sequencing of 23 genes known to be causally related to the condition was performed on the patient, parents, and maternal grandparents. A variant of uncertain significance in PITX2 was identified...
March 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28611125/design-and-rationale-of-the-phase-3-attr-act-clinical-trial-tafamidis-in-transthyretin-cardiomyopathy-clinical-trial
#20
Mathew S Maurer, Perry Elliott, Giampaolo Merlini, Sanjiv J Shah, Márcia Waddington Cruz, Alison Flynn, Balarama Gundapaneni, Carolyn Hahn, Steven Riley, Jeffrey Schwartz, Marla B Sultan, Claudio Rapezzi
Transthyretin amyloidosis is a rare, life-threatening disease resulting from aggregation and deposition of transthyretin amyloid fibrils in various tissues. There are 2 predominate phenotypic presentations of the disease: transthyretin familial amyloid polyneuropathy, which primarily affects the peripheral nerves, and transthyretin cardiomyopathy (TTR-CM), which primarily affects the heart. However, there is a wide overlap with symptoms at presentation and disease course being highly variable and influenced by the underlying transthyretin mutation, age of the affected individual, sex, and geographic location...
June 2017: Circulation. Heart Failure
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