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https://www.readbyqxmd.com/read/29792231/high-burden-of-birthweight-lowering-genetic-variants-in-africans-and-asians
#1
Fasil Tekola-Ayele, Tsegaselassie Workalemahu, Azmeraw T Amare
BACKGROUND: Birthweight is an important predictor of infant morbidity and mortality, and is associated with cardiovascular diseases, obesity, and diabetes in childhood and adulthood. Birthweight and fetal growth show regional and population variations even under similar maternal conditions, and a large proportion of these differences are not explained by environmental factors. Whether and to what extent population genetic variations at key birthweight-associated loci account for the residual birthweight disparities not explained by environmental determinants is unknown...
May 24, 2018: BMC Medicine
https://www.readbyqxmd.com/read/29791908/a-de-novo-kcna1-mutation-in-a-patient-with-tetany-and-hypomagnesemia
#2
Jenny van der Wijst, Martin Konrad, Sjoerd A J Verkaart, Marcin Tkaczyk, Femke Latta, Janine Altmüller, Holger Thiele, Bodo Beck, Karl Peter Schlingmann, Jeroen H F de Baaij
Mutations in the KCNA1 gene encoding the voltage-gated potassium (K+) channel Kv1.1 have been linked to rare neurological syndromes, episodic ataxia type 1 (EA1) and myokymia. In 2009, a KCNA1 mutation was identified in a large family with autosomal dominant hypomagnesemia. Despite efforts in establishing a genotype-phenotype correlation for the wide variety of symptoms in EA1, little is known on the serum magnesium (Mg2+) levels in these patients. In the present study, we describe a new de novo KCNA1 mutation in a Polish patient with tetany and hypomagnesemia...
May 23, 2018: Nephron
https://www.readbyqxmd.com/read/29791426/-familiar-adenomatous-polyposis-report-of-2-cases
#3
Luis Vásquez Elera, Patricia Guzman Rojas, Manuel Sánchez Herrera, Víctor Prado, Carlos García Encinas, Eduar Albán Bravo Paredes, Alejandro Bussalleu
Familial Adenomatous polyposis (FAP) it is based on an autosomal dominant mutation which results in loss of function of theAPC tumor suppressor gene. On the other hand, Gardner syndrome is a type of FAP and is characterized for multiple colonic adenomatous polyps and extracolonic abnormalities as desmoid tumors, osteomas, lipomas, dental abnormalities, dermoid cysts and duodenal adenomas. This report aims to present two patients with FAP: The first one is a patient who presented with osteomas and hematochezia, being diagnosed with Gardner Syndrome after the colonoscopy...
January 2018: Revista de Gastroenterología del Perú: órgano Oficial de la Sociedad de Gastroenterología del Perú
https://www.readbyqxmd.com/read/29791178/-rare-combination-of-turner-syndrome-and-congenital-adrenal-hyperplasia-with-21-hydroxylase-deficiency-case-report
#4
Ivana Ságová, Matej Stančík, Dušan Pavai, Daniela Kantárová, Anton Vaňuga, Peter Vaňuga
Combination of Turner syndrome (TS) and classic congenital adrenal hyperplasia (CAH) is rare. Globally, the incidence of CAH, autosomal recessive disorder caused by enzyme defect of steroidogenic pathway, is very low (1 : 10 000-16 000). 90 % of CAH cases are caused by 21-hydroxylase gene mutation (CYP21A2). Globally, the incidencie of Turner syndrome reaches 1 : 2 500. Phenotypically, females with TS may render wide spectrum of clinical features. Dominant symptoms are lowered terminal height and gonadal dysgenesia, ultimately leading to absence of puberty and infertility...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29790980/contrasting-patterns-of-genomic-diversity-reveal-accelerated-genetic-drift-but-reduced-directional-selection-on-x-chromosome-in-wild-and-domestic-sheep-species
#5
Ze-Hui Chen, Min Zhang, Feng-Hua Lv, Xue Ren, Wen-Rong Li, Ming-Jun Liu, Kiwoong Nam, Michael W Bruford, Meng-Hua Li
Analyses of genomic diversity along the X chromosome and of its correlation with autosomal diversity can facilitate understanding of evolutionary forces in shaping sex-linked genomic architecture. Strong selective sweeps and accelerated genetic drift on the X-chromosome have been inferred in primates and other model species, but no such insight has yet been gained in domestic animals compared with their wild relatives. Here, we analyzed X-chromosome variability in a large ovine data set, including a BeadChip array for 943 ewes from the world's sheep populations and 110 whole genomes of wild and domestic sheep...
April 1, 2018: Genome Biology and Evolution
https://www.readbyqxmd.com/read/29789986/optimal-equation-for-estimation-of-glomerular-filtration-rate-in-autosomal-dominant-polycystic-kidney-disease-influence-of-tolvaptan
#6
Tsuyoshi Yamaguchi, Eiji Higashihara, Takatsugu Okegawa, Isao Miyazaki, Kikuo Nutahara
BACKGROUND: The reliability of various equations for estimating the GFR in ADPKD patients and the influence of tolvaptan on the resulting estimates have not been examined when GFR is calculated on the basis of inulin clearance. METHODS: We obtained baseline and on-tolvaptan measured GFRs (mGFRs), calculated on the basis of inulin clearance, in 114 ADPKD, and these mGFRs were compared with eGFRs calculated according to four basic equations: the MDRD, CKD-EPI, and JSN-CKDI equations and the Cockcroft-Gault formula, as well as the influence of tolvaptan and of inclusion of cystatin C on accuracy of the results...
May 22, 2018: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/29789935/potential-use-of-stem-cells-as-a-therapy-for-cystinosis
#7
REVIEW
Celine J Rocca, Stephanie Cherqui
Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders (LSDs). Initial symptoms of cystinosis correspond to the renal Fanconi syndrome. Patients then develop chronic kidney disease and multi-organ failure due to accumulation of cystine in all tissue compartments. LSDs are commonly characterized by a defective activity of lysosomal enzymes. Hematopoietic stem and progenitor cell (HSPC) transplantation is a treatment option for several LSDs based on the premise that their progeny will integrate in the affected tissues and secrete the functional enzyme, which will be recaptured by the surrounding deficient cells and restore physiological activity...
May 22, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29789544/development-of-muscular-dystrophy-in-a-crispr-engineered-mutant-rabbit-model-with-frame-disrupting-ano5-mutations
#8
Tingting Sui, Li Xu, Yeh Siang Lau, Di Liu, Tingjun Liu, Yandi Gao, Liangxue Lai, Renzhi Han, Zhanjun Li
Limb girdle muscular dystrophy type 2L (LGMD2L) and Miyoshi myopathy type 3 (MMD3) are autosomal recessive muscular dystrophy caused by mutations in the gene encoding anoctamin-5 (ANO5), which belongs to the anoctamin protein family. Two independent lines of mice with complete disruption of ANO5 transcripts did not exhibit overt muscular dystrophy phenotypes; instead, one of these mice was observed to present with some abnormality in sperm motility. In contrast, a third line of ANO5-knockout (KO) mice with residual expression of truncated ANO5 expression was reported to display defective membrane repair and very mild muscle pathology...
May 22, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29788175/prevalence-of-xxy-karyotypes-in-human-blastocysts-multicentre-data-from-7549-trophectoderm-biopsies-obtained-during-preimplantation-genetic-testing-cycles-in-ivf
#9
Rossella Mazzilli, Danilo Cimadomo, Laura Rienzi, Antonio Capalbo, Paolo Emanuele Levi Setti, Claudia Livi, Damiano Vizziello, Carlo Foresta, Alberto Ferlin, Filippo Maria Ubaldi
STUDY QUESTION: Which is the prevalence of a 47,XXY karyotype in human blastocysts biopsied during preimplantation genetic testing for aneuploidies (PGT-A) cycles? SUMMARY ANSWER: The prevalence of a 47,XXY karyotype amongst male blastocysts without autosomal aneuploides is ~1%. WHAT IS KNOWN ALREADY: The prevalence of Klinefelter syndrome is estimated as 0.1-0.2% in male newborns. However, the KS phenotype is extremely variable and there are men with a 47,XXY karyotype and less evident signs, who may go undetected...
May 19, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29787577/analysis-of-micrornas-in-familial-mediterranean-fever
#10
Gil Amarilyo, Nir Pillar, Ilan Ben-Zvi, Daphna Weissglas-Volkov, Jonatan Zalcman, Liora Harel, Avi Livneh, Noam Shomron
OBJECTIVES: Although Familial Mediterranean fever (FMF) is categorized as autosomal recessive, frequent exceptions to this model exist and therefore we aimed to search epigenetic modifications in this disease. METHODS: Ten M694V homozygous FMF patients (the most severe phenotype) were recruited for this study. Patients with inflammatory flare were excluded. Total RNA was extracted from peripheral blood, and microRNA expression profiled using NanoString nCounter technology...
2018: PloS One
https://www.readbyqxmd.com/read/29787301/innovative-surgical-treatment-of-severe-cherubism
#11
Ji H Son, Danielle C Marshall, Manish Valiathan, Todd Otteson, Gerald Ferretti, Paula A Grigorian, Carol Rosen, Devra Becker, David Rowe, Hooman Soltanian, Gregory Lakin
BACKGROUND: Cherubism is an autosomal dominant syndrome characterized by excessive bilateral maxillomandibular bony degeneration and fibrous tissue hyperplasia. Conservative management is the preferred treatment as cherubism has a self-limiting course. Functional or emotional disturbances may, however, demand surgical intervention. We report a patient who underwent surgical intervention. Method/Description: He had significant enlargement of lower cheeks and bilateral lower lid scleral show...
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29786908/opposing-patterns-of-intraspecific-and-interspecific-differentiation-in-sex-chromosomes-and-autosomes
#12
Peter A Moran, Sonia Pascoal, Timothee Cezard, Judith E Risse, Michael G Ritchie, Nathan W Bailey
Linking intraspecific and interspecific divergence is an important challenge in speciation research. X chromosomes are expected to evolve faster than autosomes and disproportionately contribute to reproductive barriers, and comparing genetic variation on X and autosomal markers within and between species can elucidate evolutionary processes that shape genome variation. We performed RADseq on a 16-population transect of two closely-related Australian cricket species, Teleogryllus commodus and T. oceanicus, covering allopatry and sympatry...
May 22, 2018: Molecular Ecology
https://www.readbyqxmd.com/read/29786190/-identification-of-a-new-mutation-of-the-nphp1-gene
#13
Antonella La Russa, Rosa Anna Cifarelli, Anna Perri, Angelo Saracino, Giovanni Santarsia, Renzo Bonofiglio
Kidney cystic diseases are inherited disorders causing chronic renal failure. According to the genetic defect they are classified as diseases of the primary ciliary complex and uromodulin-associated diseases. Mutations in genes coding for ciliary proteins are the basis of a broad category of genetic diseases, called ciliopathies. To date, three important ciliopathies are known: the autosomal dominant form and the recessive shape of the polycystic kidney and the nephronophthisis (NPHP). Juvenile Nephronophthisis (NPHP) is a progressive renal tubulo-interstitial disorder with a form of autosomal recessive inheritance that progresses inexorably towards terminal renal failure...
May 2018: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/29786154/topical-polyhydroxy-acid-treatment-for-autosomal-recessive-congenital-ichthyosis-in-the-golden-retriever-a-prospective-pilot-study
#14
Anna Puigdemont, Nicla Furiani, Michela De Lucia, Isaac Carrasco, Laura Ordeix, Dolors Fondevila, Laura Ramió-Lluch, Pilar Brazis
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) in golden retrievers is due to a PNPLA1 gene mutation, which plays a role in epidermal lipid organization and metabolism. Topical therapies are used to reduce scaling; however, there are few published efficacy studies. OBJECTIVES: To examine the efficacy of topical treatment based on gluconolactone, a polyhydroxy acid with known beneficial effects on stratum corneum structure. ANIMALS: Sixteen golden retriever dogs with clinical signs of ARCI and PCR-confirmed PNPLA1 gene mutation...
May 22, 2018: Veterinary Dermatology
https://www.readbyqxmd.com/read/29786003/spontaneous-subconjunctival-abscess-in-congenital-lamellar-ichthyosis
#15
Shivanand C Bubanale, Linda Maria Genoveva De Piedade Sequeira, Bhagyajyothi B Kurbet
Congenital lamellar ichthyosis is an autosomal recessive, heterogeneous disorder presenting at birth with generalized skin involvement. The most common ophthalmic manifestation noted is bilateral ectropion of the lower eyelids. A 1-month-old female neonate, the second born of a nonconsanguineous marriage, presented with 4 days' history of redness, discharge, and swelling in the right eye. There was severe right upper eyelid ectropion, conjunctival injection, chemosis, a subconjunctival mass on the temporal bulbar conjunctiva spontaneously draining pus and corneal haze...
June 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29785796/recent-advances-in-understanding-inheritance-of-holoprosencephaly
#16
Christèle Dubourg, Artem Kim, Erwan Watrin, Marie de Tayrac, Sylvie Odent, Véronique David, Valérie Dupé
Holoprosencephaly (HPE) is a complex genetic disorder of the developing forebrain characterized by high phenotypic and genetic heterogeneity. HPE was initially defined as an autosomal dominant disease, but recent research has shown that its mode of transmission is more complex. The past decade has witnessed rapid development of novel genetic technologies and significant progresses in clinical studies of HPE. In this review, we recapitulate genetic epidemiological studies of the largest European HPE cohort and summarize the novel genetic discoveries of HPE based on recently developed diagnostic methods...
May 22, 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29785566/delineating-a-new-feature-of-constitutional-mismatch-repair-deficiency-cmmrd-syndrome-breast-cancer
#17
Lisa Bush, Melyssa Aronson, Uri Tabori, Brittany B Campbell, Raymond B Bedgood, Kory Jasperson
Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive hereditary cancer condition, characterized by an exceptionally high risk of cancer, a propensity for childhood malignancies, and cutaneous features reminiscent of neurofibromatosis type 1 (NF1). We report on two sisters originally suspected of having CMMRD syndrome due to their history of colonic polyps and NF1 associated skin findings, both were subsequently found to have biallelic MSH6 mutations. After years of CMMRD syndrome follow-up, the proband was diagnosed with breast cancer at age 29, while her sister was diagnosed with a glioblastoma at age 27...
May 21, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29784648/mouse-models-of-nesprin-related-diseases
#18
REVIEW
Can Zhou, Li Rao, Derek T Warren, Catherine M Shanahan, Qiuping Zhang
Nesprins (nuclear envelope spectrin repeat proteins) are a family of multi-isomeric scaffolding proteins. Nesprins form the LInker of Nucleoskeleton-and-Cytoskeleton (LINC) complex with SUN (Sad1p/UNC84) domain-containing proteins at the nuclear envelope, in association with lamin A/C and emerin, linking the nucleoskeleton to the cytoskeleton. The LINC complex serves as both a physical linker between the nuclear lamina and the cytoskeleton and a mechanosensor. The LINC complex has a broad range of functions and is involved in maintaining nuclear architecture, nuclear positioning and migration, and also modulating gene expression...
May 21, 2018: Biochemical Society Transactions
https://www.readbyqxmd.com/read/29784615/autosomal-dominant-tubulointerstitial-kidney-disease-clinical-presentation-of-patients-with-adtkd-umod-and-adtkd-muc1
#19
Nadia Ayasreh, Gemma Bullich, Rosa Miquel, Mónica Furlano, Patricia Ruiz, Laura Lorente, Oliver Valero, Miguel Angel García-González, Nisrine Arhda, Intza Garin, Víctor Martínez, Vanessa Pérez-Gómez, Xavier Fulladosa, David Arroyo, Alberto Martínez-Vea, Mario Espinosa, Jose Ballarín, Elisabet Ars, Roser Torra
RATIONALE & OBJECTIVE: Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare underdiagnosed cause of end-stage renal disease (ESRD). ADTKD is caused by mutations in at least 4 different genes: MUC1, UMOD, HNF1B, and REN. STUDY DESIGN: Retrospective cohort study. SETTING & PARTICIPANTS: 56 families (131 affected individuals) with ADTKD referred from different Spanish hospitals. Clinical, laboratory, radiologic, and pathologic data were collected, and genetic testing for UMOD, MUC1, REN, and HNF1B was performed...
May 18, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29784573/phactr1-genotype-predicts-coronary-artery-disease-in-patients-with-familial-hypercholesterolemia
#20
Martine Paquette, Robert Dufour, Alexis Baass
BACKGROUND: Familial hypercholesterolemia (FH) is the most frequent autosomal codominant disease worldwide and is characterized by elevated low-density lipoprotein cholesterol and premature coronary artery disease (CAD). Polymorphisms in phosphatase and actin regulator 1 (PHACTR1) have been shown to be associated with cardiovascular risk in large genome-wide association studies studies. OBJECTIVE: The aim of the present study is to evaluate the association between the rs12526453 polymorphism in the PHACTR1 gene and the prevalence of CAD in FH patients...
April 30, 2018: Journal of Clinical Lipidology
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