keyword
MENU ▼
Read by QxMD icon Read
search

Autosomal recessive

keyword
https://www.readbyqxmd.com/read/29354167/neonatal-severe-hyperparathyroidism-secondary-to-a-novel-homozygous-casr-gene-mutation
#1
Noman Ahmad, Mona Bahasan, Balgees Abdulhadi Abdullah Al-Ghamdi, Halah Faleh Al-Enizi, Ali Saeed Al-Zahrani
Neonatal severe hyperparathyroidism (NSHPT) is a rare autosomal recessive disease. Children present within the first 6 months of life and more commonly in the first few weeks. Common presentation is poor feeding, polyuria, dehydration, lethargy, failure to thrive, hypotonia, gastrointestinal dysmotility, osteopenia and symptoms of respiratory distress due to a poorly developed chest cage. We present a case of a 2-month old girl with severe hypercalcemia and hyperparathyroidism. She was found to have a novel homozygous mutation in the acceptor splicing site of intron 4 (c...
September 2017: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/29353827/oral-fat-tolerance-test-for-sitosterolemia-and-familial-hypercholesterolemia-a-study-protocol
#2
Akihiro Nomura, Hayato Tada, Atsushi Nohara, Masa-Aki Kawashiri, Masakazu Yamagishi
AIM: Sitosterolemia is an extremely rare, autosomal recessive disease characterized by high plasma cholesterols and plant sterols because of increased absorption of dietary cholesterols and sterols from the intestine, and decreased excretion from biliary tract. Previous study indicated that sitosterolemic patients might be vulnerable to post-prandial hyperlipidemia, including high remnant-like lipoprotein particles (RLP) level. Here we evaluate whether a loading dietary fat increases a post-prandial RLP cholesterol level in sitosterolemic patients compared to heterozygous familial hypercholesterolemic patients (FH)...
January 20, 2018: Journal of Atherosclerosis and Thrombosis
https://www.readbyqxmd.com/read/29353703/generation-of-an-induced-pluripotent-stem-cell-line-csc-44-from-a-parkinson-s-disease-patient-carrying-a-compound-heterozygous-mutation-c-823c-t-and-ex6-del-in-the-park2-gene
#3
Ana Marote, Yuriy Pomeshchik, Stefano Goldwurm, Anna Collin, Nuno J Lamas, Luísa Pinto, António J Salgado, Laurent Roybon
Mutations in the PARK2 gene, which encodes PARKIN, are the most frequent cause of autosomal recessive Parkinson's disease (PD). We report the generation of an induced pluripotent stem cell (iPSC) line from a 78-year-old patient carrying a compound heterozygous mutation (c.823C>T and EX6del) in the PARK2 gene. Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated cell line CSC-44 exhibits expression of common pluripotency markers, in vitro differentiation into the three germ layers and normal karyotype...
January 4, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29353266/twenty-seven-mutations-with-three-novel-pathologenic-variants-causing-biotinidase-deficiency-a-report-of-203-patients-from-the-southeastern-part-of-turkey
#4
Berna Seker Yilmaz, Neslihan Onenli Mungan, Deniz Kor, Derya Bulut, Gülşah Seydaoglu, Murat Öktem, Serdar Ceylaner
BACKGROUND: Biotinidase deficiency (BD) is an autosomal recessive inborn error of metabolism characterized by neurologic and cutaneous symptoms and can be detected by newborn screening. Newborn screening for BD was implemented in Turkey at the end of 2008. METHODS: In total, 203 patients who were identified among the infants detected by the newborn screening were later confirmed to have BD through measurement of serum biotinidase activity. We also performed BTD mutation analysis to characterize the genetic profile...
January 20, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29352809/a-novel-plec-nonsense-homozygous-mutation-c-7159g%C3%A2-%C3%A2-t-p-glu2387-causes-epidermolysis-bullosa-simplex-with-muscular-dystrophy-and-diffuse-alopecia-a-case-report
#5
Zoe Argyropoulou, Lu Liu, Linda Ozoemena, Claudia C Branco, Raquel Senra, Ângela Reis-Rego, Luisa Mota-Vieira
BACKGROUND: Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disease, characterized mainly by skin blistering at birth or shortly thereafter, progressive muscle weakness, and rarely by alopecia. EBS-MD is caused by mutations in the PLEC gene (OMIM *601282), which encodes plectin, a structural protein expressed in several tissues, including epithelia and muscle. We describe a patient affected with EBS-MD and diffuse alopecia in which we identified a novel pathogenic mutation by PCR amplification of all coding exons and exon-intron boundaries of PLEC gene, followed by bidirectional Sanger sequencing...
January 20, 2018: BMC Dermatology
https://www.readbyqxmd.com/read/29352063/arabidopsis-thaliana-fancd2-promotes-meiotic-crossover-formation
#6
Marie-Therese Kurzbauer, Monica Pradillo, Claudia Kerzendorfer, Jason Sims, Rene Ladurner, Cecilia Oliver, Michael Peter Janisiw, Magdalena Mosiolek, Dieter Schweizer, Gregory P Copenhaver, Peter Schlogelhofer
Fanconi anemia (FA) is a human autosomal recessive disorder characterized by chromosomal instability, developmental pathologies, predisposition to cancer and reduced fertility. So far, nineteen genes have been implicated in FA, most of them involved in DNA repair. Some are conserved across higher eukaryotes, including plants. The Arabidopsis thaliana genome encodes a homologue of the Fanconi anemia D2 gene (FANCD2) whose function in DNA repair is not yet fully understood. Here we provide evidence that AtFANCD2 is required for meiotic homologous recombination...
January 19, 2018: Plant Cell
https://www.readbyqxmd.com/read/29351619/repairing-folding-defective-%C3%AE-sarcoglycan-mutants-by-cftr-correctors-a-potential-therapy-for-limb-girdle-muscular-dystrophy-2d
#7
Marcello Carotti, Justine Marsolier, Michela Soardi, Elisa Bianchini, Chiara Gomiero, Chiara Fecchio, Sara F Henriques, Romeo Betto, Roberta Sacchetto, Isabelle Richard, Dorianna Sandonà
Limb Girdle Muscular Dystrophy type 2D (LGMD2D) is a rare autosomal-recessive disease, affecting striated muscle, due to mutation of SGCA, the gene coding for α-sarcoglycan. Nowadays more than 50 different SGCA missense mutations have been reported. They are supposed to impact folding and trafficking of α-sarcoglycan because the defective polypeptide, although potentially functional, is recognized and disposed of by the quality control of the cell. The secondary reduction of α-sarcoglycan partners, β-, γ- and δ-sarcoglycan, disrupts a key membrane complex that, associated to dystrophin, contributes to assure sarcolemma stability during muscle contraction...
January 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29350766/untangling-the-complexity-of-limb-girdle-muscular-dystrophies
#8
REVIEW
Teerin Liewluck, Margherita Milone
Limb-girdle muscular dystrophies (LGMD) are a group of genetically heterogeneous, autosomal inherited muscular dystrophies with childhood-to-adult onset, manifesting with hip and shoulder girdle muscle weakness. When the term LGMD was first conceptualized in 1954, it was thought to be a single entity. Currently, there are 8 autosomal dominant (LGMD1A-1H) and 26 autosomal recessive (LGMD2A-2Z) variants according to the Online Mendelian Inheritance in Man database. In addition, there are other genetically-identified muscular dystrophies with a LGMD phenotype not yet classified as LGMD...
January 19, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29350350/biochemical-changes-and-clinical-outcomes-in-34-patients-with-classic-galactosemia
#9
Tatiana Yuzyuk, Krista Viau, Ashley Andrews, Marzia Pasquali, Nicola Longo
Impaired activity of galactose-1-phosphate uridyltransferase (GALT) causes galactosemia, an autosomal recessive disorder of galactose metabolism. Early initiation of a galactose-restricted diet can prevent or resolve neonatal complications. Despite therapy, patients often experience long-term complications including speech impairment, learning disabilities, and premature ovarian insufficiency in females. This study evaluates clinical outcomes in 34 galactosemia patients with markedly reduced GALT activity and compares outcomes between patients with different levels of mean galactose-1-phosphate in red blood cells (GAL1P) using logistic regression: group 1 (n = 13) GAL1P ≤1...
January 19, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29349575/parkin-in-parkinson-s-disease-and-cancer-a-double-edged-sword
#10
REVIEW
Khushnuma Wahabi, Ahmad Perwez, Moshahid A Rizvi
Parkin for more than a decade has been portrayed as a neuroprotector gene is now increasingly emerging as a multifaceted gene that can exert entirely opposite effects i.e., both cell proliferation and apoptosis. Parkinson's disease, a neurological disease, progresses due to excess in cell death, while, in case of cancer, cell death normally fails to occur. Parkin, an E3 ubiquitin ligase, was first identified as a gene implicated in autosomal recessive juvenile Parkinsonism, but several evidences indicate that Parkin is a tumor suppressor gene, involved in a variety of cancers...
January 18, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29348084/molecular-characterization-of-autosomal-recessive-non-syndromic-hearing-loss-in-selected-families-from-district-mardan-pakistan
#11
Shahid Hussain, Jabar Zaman Khattak, Mohammad Ismail, Qaisar Mansoor, Mohammad Haroon Khan
Deafness is the most common sensory disorder, which affects 1/1000 neonates globally. Genetic factors are major contributors for hearing impairment. This study was conducted to explore the linkage of DFNB loci and their mutations with NSHL in selected Pakistani families. We included 10 families with history of deafness from district Mardan, Pakistan. Blood sample (5ml) along with personal and clinical information was collected from the available family members including both diseased and un-affected individuals...
January 2018: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/29348020/autosomal-recessive-hypercholesterolemia-long-term-cardiovascular-outcomes
#12
Laura D'Erasmo, Ilenia Minicocci, Antonio Nicolucci, Paolo Pintus, Janine E Roeters Van Lennep, Luis Masana, Pedro Mata, Rosa Maria Sánchez-Hernández, Pablo Prieto-Matos, Josè T Real, Juan F Ascaso, Eduardo Esteve Lafuente, Miguel Pocovi, Francisco J Fuentes, Sandro Muntoni, Stefano Bertolini, Cesare Sirtori, Laura Calabresi, Chiara Pavanello, Maurizio Averna, Angelo Baldassare Cefalu, Davide Noto, Adolfo Arturo Pacifico, Giovanni Mario Pes, Mariko Harada-Shiba, Enzo Manzato, Sabina Zambon, Alberto Zambon, Anja Vogt, Marco Scardapane, Barbara Sjouke, Renato Fellin, Marcello Arca
BACKGROUND: Autosomal recessive hypercholesterolemia (ARH) is a rare lipid disorder characterized by premature atherosclerotic cardiovascular disease (ASCVD). There are sparse data for clinical management and cardiovascular outcomes in ARH. OBJECTIVES: Evaluation of changes in lipid management, achievement of low-density lipoprotein cholesterol (LDL-C) goals and cardiovascular outcomes in ARH. METHODS: Published ARH cases were identified by electronic search...
January 23, 2018: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/29346610/novel-mutations-in-the-lipase-h-gene-lead-to-secretion-defects-of-liph-in-chinese-patients-with-autosomal-recessive-woolly-hair-hypotrichosis-arwh-ht
#13
Xiao-Dan Chang, Ya-Juan Gu, Shan Dai, Xue-Rong Chen, Chun-Lei Zhang, Hong-Shan Zhao, Qing-Hua Song
Autosomal recessive woolly hair/hypotrichosis (ARWH/HT: OMIM #278150/604379) is a rare hereditary hair disease characterized by tightly curled hair at birth which can lead to sparse hair later in life. The mutations in both LIPH and LPAR6/P2RY5 are responsible for autosomal recessive woolly hair with or without hypotrichosis (ARWH/HT). To conduct clinical and genetic investigations in four patients from three unrelated Chinese Han families with ARWH/HT, we performed mutation screening of LIPH and LPAR6/P2RY5 gene and identified four mutations in LIPH: c...
January 13, 2018: Mutagenesis
https://www.readbyqxmd.com/read/29346549/transcriptome-and-functional-analysis-in-a-drosophila-model-of-ngly1-deficiency-provides-insight-into-therapeutic-approaches
#14
Katie G Owings, Joshua B Lowry, Yiling Bi, Matthew Might, Clement Y Chow
Autosomal recessive loss-of-function mutations in N-Glycanase 1 (NGLY1) cause NGLY1 deficiency, the only known human disease of deglycosylation. Patients present with developmental delay, movement disorder, seizures, liver dysfunction, and alacrima. NGLY1 is a conserved cytoplasmic component of the Endoplasmic Reticulum Associated Degradation (ERAD) pathway. ERAD clears misfolded proteins from the ER lumen. However, it is unclear how loss of NGLY1 function impacts ERAD and other cellular processes and results in the constellation of problems associated with NGLY1 deficiency...
January 15, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29345845/atypical-familial-mediterranean-fever-developed-in-a-long-term-hemodialysis-patient
#15
Toshiyuki Makino, Yoshitatsu Ohara, Namiko Kobayashi, Yohei Kono, Ayumu Nomizu, Mariko Ichijo, Yutaro Mori, Noriaki Matsui, Dai Kishida, Takayuki Toda
Familial Mediterranean Fever (FMF) is usually an autosomal recessive autoinflammatory disease characterized by recurrent attacks of fever and serositis. FMF develops before the age of 20 years in 90% of patients. It has intervals of 1 week to several years between attacks, which leads to renal dysfunction-amyloidosis. We report a case of atypical FMF that developed in a long-term hemodialysis patient. A 65-year-old Japanese female undergoing hemodialysis for 32 years was referred to our hospital with a fever of unknown origin (FUO) following cervical laminoplasty...
January 18, 2018: Hemodialysis International
https://www.readbyqxmd.com/read/29345162/genetic-defect-of-a-combined-17-%C3%AE-hydroxylase-17-20-lyase-deficiency-patient-with-adrenal-crisis
#16
Yunqiang Zhang, Xuyin Zhang, Yiqun Wang, Keqin Hua, Jingxin Ding
Combined 17 α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive disease that is a type of congenital adrenal hyperplasia, which results in hypertension, hypokalemia, sexual infantilism, primary amenorrhea in females (46,XX), or pseudohermaphroditism in males (46,XY). It is mainly caused by mutation in the CYP17A1 gene, which encodes a key enzyme in the steroidogenic pathway. However, these patients rarely experience adrenal crisis, due to abnormally high corticosterone levels. Here, we report a 17OHD patient who experienced clinical adrenal crisis on day 1 after gonadectomy...
January 18, 2018: Gynecological Endocrinology
https://www.readbyqxmd.com/read/29344585/hereditary-folate-malabsorption-due-to-a-mutation-in-the-external-gate-of-the-proton-coupled-folate-transporter-slc46a1
#17
Srinivas Aluri, Rongbao Zhao, Charlotte Lubout, Susanna M I Goorden, Andras Fiser, I David Goldman
Hereditary folate malabsorption (HFM) is an autosomal recessive disorder characterized by impaired intestinal folate absorption and impaired folate transport across the choroid plexus due to loss of function of the proton-coupled folate transporter (PCFT-SLC46A1). We report a novel mutation, causing HFM, affecting a residue located in the 11th transmembrane helix within the external gate. The mutant N411K-PCFT was stable, trafficked to the cell membrane, and had sufficient residual activity to characterize the transport defect and the structural requirements at this site for gate function...
January 9, 2018: Blood Advances
https://www.readbyqxmd.com/read/29342155/nanoscopic-x-ray-fluorescence-imaging-and-quantification-of-intracellular-key-elements-in-cryofrozen-friedreich-s-ataxia-fibroblasts
#18
Björn De Samber, Eline Meul, Brecht Laforce, Boel De Paepe, Joél Smet, Michiel De Bruyne, Riet De Rycke, Sylvain Bohic, Peter Cloetens, Rudy Van Coster, Peter Vandenabeele, Tom Vanden Berghe
Synchrotron radiation based nanoscopic X-ray fluorescence (SR nano-XRF) analysis can visualize trace level elemental distribution in a fully quantitative manner within single cells. However, in-air XRF analysis requires chemical fixation modifying the cell's chemical composition. Here, we describe first nanoscopic XRF analysis upon cryogenically frozen (-150°C) fibroblasts at the ID16A-NI 'Nano-imaging' end-station located at the European Synchrotron Radiation Facility (ESRF) in Grenoble (France). Fibroblast cells were obtained from skin biopsies from control and Friedreich's ataxia (FRDA) patients...
2018: PloS One
https://www.readbyqxmd.com/read/29341518/harlequin-ichthyosis-a-case-report
#19
C H Ugezu, A Mazumdar, E Dunn, A Das
Harlequin Ichthyosis is a very rare genetic disorder affecting mainly the skin with severe morbidity and mortality. It affects both sexes with incidence of about 1 in 300,000 live births. Autosomal recessive inheritance has been inferred with mutation in ABCA 12 gene identified. Hence, genetic counseling and mutation screening of this gene should be considered in at-risk patients. Death usually occurred in the first 3 months of life due to sepsis, feeding problems and respiratory distress. With improved neonatal care and early introduction of retinoids, its survival rate has increased...
August 8, 2017: Irish Medical Journal
https://www.readbyqxmd.com/read/29340523/a-case-of-severe-glutathione-synthetase-deficiency-with-novel-gss-mutations
#20
H Xia, J Ye, L Wang, J Zhu, Z He
Glutathione synthetase deficiency (GSSD) is a rare inborn error of glutathione metabolism with autosomal recessive inheritance. The severe form of the disease is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive encephalopathy. A case of a male newborn infant who had severe metabolic acidosis with high anion gap, hemolytic anemia, and hyperbilirubinemia is reported. A high level of 5-oxoproline was detected in his urine and a diagnosis of generalized GSSD was made...
January 11, 2018: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
keyword
keyword
85813
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"