Genetics gene | Page 3

Tamara Lee Lenis, Wenlin Zhang, Vivian Shibayama, Saba Al-Hashimi, Anthony J Aldave, Sophie X Deng, Simon S M Fung
BACKGROUND: Keratitis-ichthyosis-deafness (KID) syndrome is characterized by a congenital triad of keratitis, ichthyosis, and deafness, and is most commonly associated with mutations in the gap junction protein beta 2 gene (GJB2) on chromosome 13q11-q12. METHODS: Multimodal anterior segment imaging and genetic testing were used to supplement clinical examination findings in the diagnosis and management of a 12-year-old boy with suspected KID syndrome. RESULTS: The patient presented with hearing loss, ichthyosis of the face and extremities, and corneal scarring and keratinization...
June 30, 2020: Cornea
Karen Fischer, Alithe L van den Akker, Helle Larsen, Terrence D Jorgensen, Geertjan Overbeek
OBJECTIVE: This study investigated how genetic susceptibility may affect children's sensitivity to parenting practices in their development of externalizing behavior. We created a continuous polygenic index composed of 5 dopamine polymorphisms to investigate the moderating role of dopamine-related genes in shaping parent-child gene-by-environment (Gc×E) interactions. Accumulating research supports that differences in children's dopamine neurotransmission make certain children more susceptible to both negative and positive parenting practices, a "for-better and for-worse" effect...
June 26, 2020: Journal of Developmental and Behavioral Pediatrics: JDBP
Chiara Pavanello, Laura Calabresi
PURPOSE OF REVIEW: Genetic LCAT deficiency is a rare metabolic disorder characterized by low-plasma HDL cholesterol levels. Clinical manifestations of the disease include corneal opacification, anemia, and renal disease, which represents the major cause of morbidity and mortality in carriers. RECENT FINDINGS: Biochemical and clinical manifestations of the disease are very heterogeneous among carriers. The collection of large series of affected individuals is needed to answer various open questions on this rare disorder of lipid metabolism, such as the cause of renal damage in patients with complete LCAT deficiency and the cardiovascular risk in carriers of different LCAT gene mutations...
June 28, 2020: Current Opinion in Lipidology
Michele Bisceglia, Gaetano Panniello, Carlos A Galliani, Michele Centola, Maria M D'Errico, Elena Minenna, Francesco A Tucci, David J Ben-Dor
Basal cell carcinoma (BCC) of the skin is the most common type of malignant human tumor. In Europe, the incidence of BCC ranges from 44.6 to 128 cases per 100,000 inhabitants annually, whereas in the United States, the yearly incidence rate ranges between 500 and 1500. The global incidence has been calculated to be as high as 10 million cases of BCC per year. There are 2 main clinical patterns of BCC-the familial BCC in basal cell nevus syndrome and sporadic BCC. The etiology of cutaneous BCC is usually the result of the interaction between solar ultraviolet radiation and genetic factors...
July 1, 2020: Advances in Anatomic Pathology
Feifei Xu, Alejandro Jiménez-González, Elin Einarsson, Ásgeir Ástvaldsson, Dimitra Peirasmaki, Lars Eckmann, Jan O Andersson, Staffan G Svärd, Jon Jerlström-Hultqvist
Diplomonad parasites of the genus Giardia have adapted to colonizing different hosts, most notably the intestinal tract of mammals. The human-pathogenic Giardia species, Giardia intestinalis , has been extensively studied at the genome and gene expression level, but no such information is available for other Giardia species. Comparative data would be particularly valuable for Giardia muris , which colonizes mice and is commonly used as a prototypic in vivo model for investigating host responses to intestinal parasitic infection...
July 3, 2020: Microbial Genomics
B S Sosa-Madrid, L Varona, A Blasco, P Hernández, C Casto-Rebollo, N Ibáñez-Escriche
An experiment of divergent selection for intramuscular fat was carried out at Universitat Politècnica de València. The high response of selection in intramuscular fat content, after nine generations of selection, and a multidimensional scaling analysis showed a high degree of genomic differentiation between the two divergent populations. Therefore, local genomic differences could link genomic regions, encompassing selective sweeps, to the trait used as selection criterion. In this sense, the aim of this study was to identify genomic regions related to intramuscular fat through three methods for detection of selection signatures and to generate a list of candidate genes...
June 19, 2020: Animal
V Déru, A Bouquet, C Hassenfratz, B Blanchet, C Carillier-Jacquin, H Gilbert
The use of diets with increased fibre content from alternative feedstuffs less digestible for pigs is a solution considered to limit the impact of increased feed costs on pig production. This study aimed at determining the impact of an alternative diet on genetic parameters for growth, feed efficiency, carcass composition and meat quality traits. A total of 783 Large White pigs were fed a high-fibre (HF) diet and 880 of their sibs were fed a conventional (CO) cereal-based diet. Individual daily feed intake, average daily gain, feed conversion ratio and residual feed intake were recorded as well as lean meat percentage (LMP), carcass yield (CY) and meat quality traits...
June 19, 2020: Animal
Sezen Güntekin Ergün, Burcu Baloş Tuncer, Mehmet Ali Ergün, Guyem Kolbaşı, Metin Orhan, Ferda E Perçin
PURPOSE: The aim of this study was to assess the genetic evaluation of a three-generation consanguineous family with isolated oligodontia. MATERIALS AND METHODS: A 16-year-old male patient who had been referred for orthodontic treatment due to the presence of oligodontia, and his family members who presented several missing teeth had been enrolled in the study. Clinical and radiological assessments and genetic analysis including whole-exome sequencing were performed...
April 1, 2020: Oral Health & Preventive Dentistry
Aeran Kwon, Dongil Min, Yourim Kim, Min Jin Jin, Seung-Hwan Lee
INTRODUCTION: Suicidal behavior of post-traumatic stress disorder (PTSD) patients is influenced by genetic and environmental factors. The catechol-O-methyltransferase (COMT) gene has been known to be associated with suicidal ideation. The present study aimed to explore the relationship of COMT polymorphism, childhood trauma, and suicidal ideation in patients with PTSD. METHODS: Fifty patients with PTSD and 62 healthy controls (HCs) were recruited, and COMT variants rs4680 and rs4633 were genotyped through peripheral blood...
July 2, 2020: Brain and Behavior
Jonas M den Heijer, Valerie C Cullen, Marialuisa Quadri, Arnoud Schmitz, Dana C Hilt, Peter Lansbury, Henk W Berendse, Wilma D J van de Berg, Rob M A de Bie, Jeffrey M Boertien, Agnita J W Boon, M Fiorella Contarino, Jacobus J van Hilten, Jorrit I Hoff, Tom van Mierlo, Alex G Munts, Anne A van der Plas, Mirthe M Ponsen, Frank Baas, Danielle Majoor-Krakauer, Vincenzo Bonifati, Teus van Laar, Geert J Groeneveld
BACKGROUND: The most common genetic risk factor for Parkinson's disease known is a damaging variant in the GBA1 gene. The entire GBA1 gene has rarely been studied in a large cohort from a single population. The objective of this study was to assess the entire GBA1 gene in Parkinson's disease from a single large population. METHODS: The GBA1 gene was assessed in 3402 Dutch Parkinson's disease patients using next-generation sequencing. Frequencies were compared with Dutch controls (n = 655)...
July 2, 2020: Movement Disorders: Official Journal of the Movement Disorder Society
Janan Mohamad, Arti Nanda, Mor Pavlovsky, Alon Peled, Natalia Malchin, Kiril Malovitski, Rashida Pramanik, Daphna Weissglas-Volkov, Noam Shomron, John McGrath, Eli Sprecher, Ofer Sarig
Autosomal recessive congenital ichthyosis (ARCI) manifests with generalized scaling often associated with generalized erythema. Mutations in at least 13 different genes have been reported to cause ARCI. Acral peeling skin syndrome (APSS) is a rare autosomal recessive disorder manifesting with peeling over the distal limbs and dorsal surfaces of hands and feet. APSS is mostly due to mutations in TGM5, encoding transglutaminase 5. Both ARCI and APSS are fully penetrant genetic traits. Here we describe a consanguineous family in which one patient with mild ARCI was found to carry a homozygous mutation in ALOXE3 (c...
July 2, 2020: Experimental Dermatology
Sharda Choudhary, Mahantesha B N Naika, R D Meena
Coriander (Coriandrum sativum L.) is a well-known spice and aromatic crop cultivated globally. Stem gall disease is one of the major constraints for its leaf and seed quality used for consumption and also affecting the yield. The identification of resistance genes and further characterization of such genes could help to understand the molecular basis of resistance and lay a solid ground for cloning of stem gall resistance genes in coriander. To evaluate the genetic expression of disease resistance-relevant genes in popularly grown coriander cultivars in India such as Pant Haritma, Hisar Sugandh, Hisar Surabhi, Hisar Anand, Rajendra Swathi, ACr-1, ACr-2, AgCr-1, CO-2 and CS-6 were used for LRR, GDSL, USP, ANK and PDR gene expression using Real Time PCR along with 18S housekeeping gene as internal control for the normalization...
July 2, 2020: Molecular Biology Reports
Anna-Lena Ruppert, Maryam Keshavarz, Sarah Winterberg, Johannes Oberwinkler, Wolfgang Kummer, Burkhard Schütz
Tuft cells are a rare population of chemosensory cells at the mucosal surface epithelia of hollow organs. Their name-giving morphological feature is an apical tuft of stiff microvilli. Accordingly, the actin-binding protein, villin, was identified as one of the first tuft cell markers in immunohistochemical analysis. Unfortunately, villin expression is not restricted to tuft cells, but is also prominent e.g. in enterocytes, which limits the use of this gene as a marker and as an experimental tool to genetically target tuft cells...
July 2, 2020: Journal of Molecular Histology
M T Guerra-García, H Moreno-Macías, A Ochoa-Guzmán, M L Ordoñez-Sánchez, R Rodríguez-Guillen, P Vázquez-Cárdenas, V M Ortíz-Ortega, M Peimbert-Torres, C A Aguilar-Salinas, M T Tusié-Luna
PURPOSE: Both type 2 diabetes (T2D) and low levels of high-density lipoprotein cholesterol (HDL-C) are very prevalent conditions among Mexicans. Genetic variants in the LIPC gene have been associated with both conditions. This study aimed to evaluate the association of the -514C < T (rs1800588) LIPC gene polymorphism with different metabolic traits, particularly the effects of this polymorphism on HDL-C plasma levels and T2D risk. METHODS: Mediation analysis was used to assess the direct and indirect effects of the -514C>T LIPC gene variant on HDL-C levels, T2D risk, and body mass index (BMI), in 2105 Mexican mestizo participants...
July 2, 2020: Journal of Endocrinological Investigation
Xin Huang, Yuhui Li, Junguo Zhang, Xiaojie Wang, Ziyi Li, Guowei Li
As the most common cardiac arrhythmia, atrial fibrillation (AF) is a major risk factor for stroke, heart failure, and premature death with considerable associated costs. However, no available treatment options have optimal benefit-harm profiles currently, reflecting an incomplete understanding of the biological mechanisms underlying this complex arrhythmia. Recently, molecular epidemiological studies, especially genome-wide association studies, have emphasized the substantial genetic component of AF etiology...
July 2, 2020: Human Genetics
Renato Assis Machado, Carolina de Oliveira Silva, Hercílio Martelli-Junior, Lucimara Teixeira das Neves, Ricardo D Coletta
OBJECTIVES: Genetic variants in multiple genes and loci have been associated with the risk of nonsyndromic cleft lip with or without cleft palate (NSCL ± P). However, the estimation of risk remains challenge, because most of these variants are population-specific rendering the identification of the underlying genetic risk difficult. Herein we examined the use of machine learning network in previously reported single nucleotide polymorphisms (SNPs) to predict risk of NSCL ± P in the Brazilian population...
July 2, 2020: Clinical Oral Investigations
Laura L Daniel, Alyson L Dickson, Cecilia P Chung
Precision medicine aims to personalize treatment for both effectiveness and safety. As a critical component of this emerging initiative, pharmacogenomics seeks to guide drug treatment based on genetics. In this review article, we give an overview of pharmacogenomics in the setting of an immunosuppressant frequently prescribed by rheumatologists, azathioprine. Azathioprine has a narrow therapeutic index and a high risk of adverse events. By applying candidate gene analysis and unbiased approaches, researchers have identified multiple variants associated with an increased risk for adverse events associated with azathioprine, particularly bone marrow suppression...
July 2, 2020: Clinical Rheumatology
Christine Cordova, Sylvia C Kurz
PURPOSE OF REVIEW: Our understanding of the genetic and epigenetic alterations in meningioma and the underlying tumor biology of meningioma has significantly changed over the past decade and resulted in revision of prognostically relevant meningioma subclasses within and beyond the WHO classification of CNS tumors. RECENT FINDINGS: The 2016 WHO classification of CNS tumors recognizes WHO grade I, II, and III based on histopathological features. Recent work has identified genetic alterations with prognostic implications, including mutations of the TERT promoter, loss of function of the DMD gene, and inactivation of the tumor suppressor BAP-1...
July 3, 2020: Current Oncology Reports
Li-Hua Pu, Zhao Li, Jie Wu, Yu-Lin Zhang, Jia-Qi Chen, Jian-Fa Yang, Feng-Cai Zou
Amebiasis is a worldwide parasitic zoonosis, with symptoms of abdominal discomfort, indigestion, diarrhea, and even death. However, limited information about the prevalence of Entamoeba spp. in experimental nonhuman primates (NHPs) in southwestern China is available. The objective of the current study was to investigate the frequency and species identity of Entamoeba to evaluate potential zoonotic risk factors for Entamoeba spp. infection in experimental NHPs. A total of 505 fecal samples were collected from NHPs (macaques) and analyzed by PCR analysis the small subunit rRNA (SSU rRNA) gene of Entamoeba spp...
July 3, 2020: Parasitology Research
Weerachai Saijuntha, Chairat Tantrawatpan, Takeshi Agatsuma, Kunyarat Duenngai, Paiboon Sithithaworn, Trevor N Petney, Ross H Andrews
Echinostomes are a diverse group of digenetic trematodes that are difficult to classify by predominantly traditional techniques and contain many cryptic species. Application of contemporary genetic/molecular markers can provide an alternative choice for comprehensive classification or systematic analysis. In this study, we successfully characterized the intron 5 of domain 1 of the taurocyamine kinase gene (TkD1Int5) of Artyfechinostomum malayanum and the other two species of the 37 collar-spined group, Echinostoma revolutum and Echinostoma miyagawai, whereas TkD1Int5 of Hypoderaeum conoideum cannot be amplified...
July 2, 2020: Parasitology Research
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