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https://www.readbyqxmd.com/read/29334628/production-and-characterization-of-human-induced-pluripotent-stem-cells-ipscs-from-joubert-syndrome-cssi001-a-2850
#1
Jessica Rosati, Filomena Altieri, Silvia Tardivo, Elisa Maria Turco, Marina Goldoni, Iolanda Spasari, Daniela Ferrari, Laura Bernardini, Giuseppe Lamorte, Enza Maria Valente, Angelo Luigi Vescovi
Joubert Syndrome (JS) is a rare autosomal recessive or X-linked condition characterized by a peculiar cerebellar malformation, known as the molar tooth sign (MTS), associated with other neurological phenotypes and multiorgan involvement. JS is a ciliopathy, a spectrum of disorders whose causative genes encode proteins involved in the primary cilium apparatus. In order to elucidate ciliopathy-associated molecular mechanisms, human induced pluripotent stem cells (hiPSCs) were derived from a patient affected by JS carrying a homozygous missense mutation in the AHI1 gene (p...
January 9, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29334213/conservative-management-of-ovarian-fibroma-in-a-case-of-gorlin-goltz-syndrome-comorbid-with-endometriosis
#2
Sepideh Khodaverdi, Leila Nazari, Abolfazl Mehdizadeh-Kashi, Mansoureh Vahdat, Samaneh Rokhgireh, Ali Farbod, Banafsheh Tajbakhsh
Ovarian fibromas are the most common benign solid ovarian tumors, which are often difficult to diagnose preoperatively. Ovarian fibromas, especially in bilateral cases, may be cases of Gorlin-Goltz syndrome (GGS), a rare autosomal dominant disorder with predisposition to basal cell carcinomas (BCCs) and other various benign and malignant tumors. This case report describes a 25 year-old female with GGS, bilateral ovarian fibroma, endometriosis and septated uterus, which was referred to the Gynecology Clinic of Rasoul-e-Akram Hospital in October 2016...
April 2018: International Journal of Fertility & Sterility
https://www.readbyqxmd.com/read/29333833/-infrequent-mutation-in-renal-coloboma-syndrome-case-report-and-review
#3
Ignacio Ruiz Del Olmo Izuzquiza, Yolanda Romero Salas, Ana Rodríguez Valle, Inmaculada González Viejo, María L Justa Roldán
Renal-coloboma syndrome is an autosomal dominant disease characterized by renal hypodysplasia and coloboma. A case of a 12-year-old girl with chronic kidney disease, bilateral optic nerve colobomas and an exceptional PAX-2 gene mutation is presented. Diagnosed in prenatal scans with bilateral renal hypoplasia, she presented clinical and laboratory findings of chronic kidney disease at 5 days of life. Following tests showed grade II bilateral vesicoureteral reflux spontaneously solved, maintained non nephrotic proteinuria controlled with enalapril and bilateral colobomas with left macular atrophy...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29333829/-galactosialidosis-a-new-de-novo-mutation-in-ctsa-gene-in-a-patient-with-late-infantile-galactosialidosis
#4
Lara García Hernández, Javier Sierra Sirvent, Laura Gort Mas, María J Coll Roseli
Galactosialidosis (OMIM #256540) is an autosomal recessive lysosomal storage disorder caused by mutations in the CTSA gene, which encodes the protective protein cathepsin A. The loss of function of this protein causes a secondarily deficiency of beta-galactosidase and N-acetyl-a-neuraminidase enzymes activities. We describe the clinical, biochemical and molecular analysis of a case report with a phenotype compatible with the late infantile form. The biochemical analysis reveled deficiencies of beta-galactosidase and neuraminidase activities in dried blood spot and fibroblasts and the molecular study showed two missense mutations in the CTSA gene: a previously reported mutation, p...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29332133/fumarate-hydratase-fh-deficiency-in-uterine-leiomyomas-recognition-by-histological-features-versus-blind-immunoscreening
#5
Lisa Siegler, Ramona Erber, Stefanie Burghaus, Tobias Brodkorb, David Wachter, Nafisa Wilkinson, James Bolton, Helen Stringfellow, Florian Haller, Matthias W Beckmann, Arndt Hartmann, Abbas Agaimy
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is a rare autosomal dominant disease caused by germline mutations in the fumarate hydratase (FH) gene. Affected individuals develop cutaneous and uterine leiomyomas and aggressive RCC. To date, only few publications described the frequency and morphology of FH-deficient uterine leiomyomas. We reviewed 22 cases collected over 8 years from routine and consultation files based on distinctive histological features. In addition, we screened 580 consecutive uterine leiomyomas from 484 patients, 23 extra-uterine and 8 uterine leiomyosarcomas, and 6 leiomyomas with bizarre nuclei for FH loss using immunohistochemistry (IHC) on tissue microarrays (TMAs)...
January 13, 2018: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/29331980/dmc1-mutation-that-causes-human-non-obstructive-azoospermia-and-premature-ovarian-insufficiency-identified-by-whole-exome-sequencing
#6
Wen-Bin He, Chao-Feng Tu, Qiang Liu, Lan-Lan Meng, Shi-Min Yuan, Ai-Xiang Luo, Fu-Sheng He, Juan Shen, Wen Li, Juan Du, Chang-Gao Zhong, Guang-Xiu Lu, Ge Lin, Li-Qing Fan, Yue-Qiu Tan
BACKGROUND: The genetic causes of the majority of male and female infertility caused by human non-obstructive azoospermia (NOA) and premature ovarian insufficiency (POI) with meiotic arrest are unknown. OBJECTIVE: To identify the genetic cause of NOA and POI in two affected members from a consanguineous Chinese family. METHODS: We performed whole-exome sequencing of DNA from both affected patients. The identified candidate causative gene was further verified by Sanger sequencing for pedigree analysis in this family...
January 13, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29331360/fully-automated-segmentation-of-polycystic-kidneys-from-noncontrast-computed-tomography-a-feasibility-study-and-preliminary-results
#7
Dario Turco, Maddalena Valinoti, Eva Maria Martin, Carlo Tagliaferri, Francesco Scolari, Cristiana Corsi
RATIONALE AND OBJECTIVES: Total kidney volume is an important biomarker for the evaluation of autosomal dominant polycystic kidney disease progression. In this study, we present a novel approach for automated segmentation of polycystic kidneys from non-contrast-enhanced computed tomography (CT) images. MATERIALS AND METHODS: Non-contrast-enhanced CT images were acquired from 21 patients with a diagnosis of autosomal dominant polycystic kidney disease. Kidney volumes obtained from the fully automated method were compared to volumes obtained by manual segmentation and evaluated using linear regression and Bland-Altman analyses...
January 10, 2018: Academic Radiology
https://www.readbyqxmd.com/read/29331165/investigating-the-population-structure-and-genetic-differentiation-of-livestock-guard-dog-breeds
#8
D Bigi, S P Marelli, L Liotta, S Frattini, A Talenti, G Pagnacco, M Polli, P Crepaldi
Livestock guarding dogs are a valuable adjunct to the pastoral community. Having been traditionally selected for their working ability, they fulfil their function with minimal interaction or command from their human owners. In this study, the population structure and the genetic differentiation of three Italian livestock guardian breeds (Sila's Dog, Maremma and Abruzzese Sheepdog and Mannara's Dog) and three functionally and physically similar breeds (Cane Corso, Central Asian Shepherd Dog and Caucasian Shepherd Dog), totalling 179 dogs unrelated at the second generation, were investigated with 18 autosomal microsatellite markers...
January 14, 2018: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/29331020/human-phenotypes-caused-by-piezo1-mutations-one-gene-two-overlapping-phenotypes
#9
Silvia Martin-Almedina, Sahar Mansour, Pia Ostergaard
PIEZO1 is a large mechanosensitive ion channel protein. Diseases associated with PIEZO1 include autosomal recessive Generalised Lymphatic Dysplasia of Fotiou (GLDF) and autosomal dominant Dehydrated Hereditary Stomatocytosis with or without pseudohyperkalemia and/or perinatal oedema (DHS). The two disorders show overlapping features, fetal hydrops/perinatal oedema have been reported in both. Electrophysiological studies suggest opposite mechanisms of action, the mutations identified in GLDF patients cause a loss-of-function mechanism of disease and mutations in DHS patients cause gain-of-function...
January 13, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29331002/genetics-of-human-hereditary-hearing-impairment
#10
Rahat Meena, Muhammad Ayub
Hereditary hearing impairment is heterogeneous type of disorder which can be caused due to environmental as well as genetical factors. Two distinct types of hereditary hearing loss are syndromic or non-syndromic. Non-syndromic hearing loss is further categorized as autosomal recessive, autosomal dominant, X-linked and mitochondrial deafness. Autosomal recessive occurs more frequently as compared to autosomal dominant. Mutations in various genes are responsible for hereditary hearing impairment. To date, about 99 autosomal recessives and 67 autosomal dominant genes for deafness have been discovered...
October 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/29330641/characteristics-of-mutyh-variants-in-japanese-colorectal-polyposis-patients
#11
Misato Takao, Tatsuro Yamaguchi, Hidetaka Eguchi, Yuhki Tada, Masakazu Kohda, Koichi Koizumi, Shin-Ichiro Horiguchi, Yasushi Okazaki, Hideyuki Ishida
BACKGROUND: The base excision repair gene MUTYH is the causative gene of colorectal polyposis syndrome, which is an autosomal recessive disorder associated with a high risk of colorectal cancer. Since few studies have investigated the genotype-phenotype association in Japanese patients with MUTYH variants, the aim of this study was to clarify the clinicopathological findings in Japanese patients with MUTYH gene variants who were detected by screening causative genes associated with hereditary colorectal polyposis...
January 12, 2018: International Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29330547/recessive-loss-of-function-pign-alleles-including-an-intragenic-deletion-with-founder-effect-in-la-r%C3%A3-union-island-in-patients-with-fryns-syndrome
#12
Jean-Luc Alessandri, Christopher T Gordon, Marie-Line Jacquemont, Nicolas Gruchy, Norbert F Ajeawung, Guillaume Benoist, Myriam Oufadem, Asma Chebil, Yannis Duffourd, Coralie Dumont, Marion Gérard, Paul Kuentz, Thibaud Jouan, Francesca Filippini, Thi Tuyet Mai Nguyen, Olivier Alibeu, Christine Bole-Feysot, Patrick Nitschké, Asma Omarjee, Duksha Ramful, Hanitra Randrianaivo, Bérénice Doray, Laurence Faivre, Jeanne Amiel, Philippe M Campeau, Julien Thevenon
Fryns syndrome (FS) is a multiple malformations syndrome with major features of congenital diaphragmatic hernia, pulmonary hypoplasia, craniofacial dysmorphic features, distal digit hypoplasia, and a range of other lower frequency malformations. FS is typically lethal in the fetal or neonatal period. Inheritance is presumed autosomal recessive. Although no major genetic cause has been identified for FS, biallelic truncating variants in PIGN, encoding a component of the glycosylphosphatidylinositol (GPI)-anchor biosynthesis pathway, have been identified in a limited number of cases with a phenotype compatible with FS...
January 12, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29330472/amyloid-deposition-in-a-mouse-model-humanized-at-the-transthyretin-and-retinol-binding-protein-4-loci
#13
Xiangshun Li, Yanyi Lyu, Jingling Shen, Yanshuang Mu, Lixia Qiang, Li Liu, Kimi Araki, Bruno P Imbimbo, Ken-Ichi Yamamura, Shoude Jin, Zhenghua Li
Familial amyloidotic polyneuropathy is an autosomal dominant disorder caused by a point mutation in the transthyretin (TTR) gene. The process of TTR amyloidogenesis begins with rate-limiting dissociation of the TTR tetramer. Thus, the TTR stabilizers, such as Tafamidis and Diflunisal, are now in clinical trials. Mouse models will be useful to testing the efficacy of these drugs. Although several mouse models have been generated, they all express mouse Rbp4. Thus, human TTR associates with mouse RBP4, resulting in different kinetic and thermodynamic stability profiles of TTR tetramers...
January 12, 2018: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/29330367/characterization-of-human-small-heat-shock-protein-hspb1-%C3%AE-crystallin-domain-localized-mutants-associated-with-hereditary-motor-neuron-diseases
#14
Stephen D Weeks, Lydia K Muranova, Michelle Heirbaut, Steven Beelen, Sergei V Strelkov, Nikolai B Gusev
Congenital mutations in human small heat shock protein HSPB1 (HSP27) have been linked to Charcot-Marie-Tooth disease, a commonly occurring peripheral neuropathy. Understanding the molecular mechanism of such mutations is indispensable towards developing future therapies for this currently incurable disorder. Here we describe the physico-chemical properties of the autosomal dominant HSPB1 mutants R127W, S135F and R136W. Despite having a nominal effect on thermal stability, the three mutations induce dramatic changes to quaternary structure...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29329987/quantitative-proteomics-in-friedreich-s-ataxia-b-lymphocytes-a-valuable-approach-to-decipher-the-biochemical-events-responsible-for-pathogenesis
#15
Lorène Télot, Elodie Rousseau, Emmanuel Lesuisse, Camille Garcia, Bastien Morlet, Thibaut Léger, Jean-Michel Camadro, Valérie Serre
Friedreich's ataxia (FRDA) represents the most frequent type of autosomal-recessively inherited ataxia and is caused by the deficiency of frataxin, a mitochondrial protein. It is known that frataxin-deficiency leads to alterations in cellular and mitochondrial iron metabolism and impacts in the cell physiology at several levels. Frataxin is thought to play a role in iron-sulfur cluster biogenesis and heme synthesis. Currently, cellular antioxidant defense is dysregulated when frataxin is deficient, which exacerbates oxidative damage in FRDA...
January 9, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29329524/uncovering-the-evolutionary-history-of-neo-xy-sex-chromosomes-in-the-grasshopper-ronderosia-bergii-orthoptera-melanoplinae-through-satellite-dna-analysis
#16
Octavio M Palacios-Gimenez, Diogo Milani, Bernardo Lemos, Elio R Castillo, Dardo A Martí, Erica Ramos, Cesar Martins, Diogo C Cabral-de-Mello
BACKGROUND: Neo-sex chromosome systems arose independently multiple times in evolution, presenting the remarkable characteristic of repetitive DNAs accumulation. Among grasshoppers, occurrence of neo-XY was repeatedly noticed in Melanoplinae. Here we analyzed the most abundant tandem repeats of R. bergii (2n = 22, neo-XY♂) using deep Illumina sequencing and graph-based clustering in order to address the neo-sex chromosomes evolution. RESULTS: The analyses revealed ten families of satDNAs comprising about ~1% of the male genome, which occupied mainly C-positive regions of autosomes...
January 8, 2018: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/29329516/bilateral-giant-retinal-tears-in-osteogenesis-imperfecta
#17
Paolo Scollo, Martin Paul Snead, Allan James Richards, Rebecca Pollitt, Catherine DeVile
BACKGROUND: Osteogenesis imperfecta (OI) is a rare primarily autosomal dominant condition in which the connective tissues of bones, ligaments and sclerae do not form properly. Typically, mutations in COL1A1 and COL1A2 genes lead to the defective formation or quantity of type I collagen, the principle matrix in these tissues. Molecular genetic studies have now elucidated multiple genetic subtypes of the disorder but little literature exists on the risk of retinal tears and detachments in OI...
January 12, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29329175/clinical-description-molecular-analysis-of-twist2-gene-and-surgical-treatment-in-a-patient-with-barber-say-syndrome
#18
Francisca Zuazo, Mirena C Astiazaran, Lourdes Rodríguez-Cabrera, Patricia Garcia-Regil, Oscar Chacon-Camacho, José L Tovilla-Canales, Juan C Zenteno
Barber-Say syndrome is a rare autosomal dominant disease characterized by dysmorphic features, mainly of the eyelids and skin. It is caused by heterozygous mutations in gene TWIST2, localized in chromosome 2q37.3. The authors present the case of a pediatric patient with a clinical diagnosis of Barber-Say syndrome with ocular symptoms related to exposure keratitis. Molecular analysis of her DNA revealed a mutation on TWIST2 gene confirming the diagnosis of Barber-Say syndrome. Surgical treatment of the patient's eyelids resolved her signs and symptoms...
January 10, 2018: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29328376/identification-of-a-novel-compound-heterozygous-mutation-of-the-cyp21a2-gene-causing-21%C3%A2-hydroxylase-deficiency-in-a-chinese-pedigree
#19
Jia Liu, Xiujuan Zhang, Haiqing Zhang, Li Fang, Jin Xu, Qingbo Guan, Chao Xu
21‑Hydroxylase deficiency (21‑OHD) is the most common cause of congenital adrenal hyperplasia. Inherited in an autosomal recessive manner, 21‑OHD is caused by mutations in the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene. The present study was designed to investigate the genetic characteristics of one Chinese pedigree and to identify the genotype‑phenotype association, thereby facilitating the precise diagnosis of 21‑OHD at the molecular level. Members of a Chinese family with 21‑OHD were screened for mutations in the CYP21A2 gene...
January 8, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29327796/speech-characteristics-in-the-congenital-and-childhood-onset-forms-of-myotonic-dystrophy-type-1
#20
Lotta Sjögreen, Åsa Mårtensson, Anne-Berit Ekström
BACKGROUND: Myotonic dystrophy type 1 (DM1) is a slowly progressive multi-systemic disease with an autosomal-dominant inheritance caused by a mutation on chromosome 19 (19q13.3). AIMS: To explore speech characteristics in a group of individuals with the congenital and childhood-onset forms of DM1 in terms of intelligibility, speech-sound production, nasality and compensatory articulation. A further aim was to analyse whether speech characteristics were correlated to subforms of DM1 and if speech outcome could be related to muscle strength...
January 12, 2018: International Journal of Language & Communication Disorders
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