Global Fluoroquinolone Resistance Epidemiology and Implictions for Clinical Use by Axel Dalhoff

“…However, 10 to 30% of these isolates harbored first-step mutations conferring low level fluoroquinolone resistance. …”
Get full text

Ribitol and ribose treatments differentially affect metabolism of muscle tissue in FKRP mutant mice by Marcela P. Cataldi, Qi L. Lu

“…Clinical trials with both ribitol and ribose have been reported for treating LGMD2I caused by mutations in the FKRP gene. Here we compared the comprehensive metabolite profiles of the skeletal muscle between ribitol-treated and ribose-treated FKRP mutant mice. …”
Get full text

Circulating Dynamics of SARS-CoV-2 Variants between April 2021 and February 2022 in Turkey by Murat Sayan, Ayse Arikan, Murat Isbilen

“…In the current study, spike-genome next-generation sequencing was generated from 492 SARS-CoV-2 isolates to evaluate the mutations in Turkey from April 2021 to February 2022. …”
Get full text

The Effectiveness Of Spiritual Emotional Freedom Technique (SEFT) On The Decrease of Psychological Issues In Cancer Patients: A Systematic Review by Meliawati Putri Salsabila, Enie Novieastari

“…Basically, cancer can occur due to genetic changes (mutations), especially in the gene that regulates growth, namely oncogenes. …”
Get full text

Into the ears, through the head, out on the lips. How listening errors can trigger new instances of palatalisation by Olivier Glain

“…L’auteur propose une hypothèse selon laquelle les grandes mutations sociales et idéologiques qui ont caractérisé le monde anglo-saxon après la Seconde Guerre Mondiale ont favorisé le développement de palato-alvéolaires à l’origine non-standard.…”
Get full text

Fingertips Ischemia, Nephroangiosclerosis, and Focal Segmental Glomerulosclerosis: Is Genetic Thrombophilia the Unique Explanation? by Lisa Giovannini, Carlo Donadio

“…Case Presentation. 53-years-old-man with essential hypertension and nonnephrotic proteinuria (1.3 gr/24 h) and with normal renal function (eGFR-MDRD 123 mL/min/1.73 m2) was admitted to nephrology department; kidney biopsy showed FSGS; two years later the patient presented with ulceration and ischemic gangrene of the IV and V right-hand fingertips; genetic analysis demonstrated polymorphism of the methylenetetrahydrofolate reductase genes C677T (heterozygote C677T/1298AC with normal value of homocysteine) and mutations of prothrombin gene G20210A and of plasminogen activator inhibitor-1 4G/5G 675 with slight increase of its value. …”
Get full text

Role of SarA in Staphylococcus aureus: A Virulence Target For Therapeutic Strategies by Yi He Kuai, Jodi Woan-Fei Law, Yong Sze Ong, Vengadesh Letchumanan, Learn-Han Lee, Loh Teng-Hern Tan

“…SarA plays a crucial role in the pathogenic mechanisms of S. aureus and the development of biofilms, while simultaneously modulating the synthesis of multiple virulence factors and influencing the expression of specific colonization determinants, and mutations in sarA partially limit the extent of S. aureus biofilms formation. …”
Get full text

Multiple small bowel GIST as GI manifestation of neurofibromatosis type I: A case report by Habtamu Tsegaye, Adamu Tigabu

“…In NF1-associated GIST, KIT and PDGFRA mutations are frequently absent and imatinib is ineffective. …”
Get full text

Linking Epigenetics to Human Disease and Rett Syndrome: The Emerging Novel and Challenging Concepts in MeCP2 Research by Robby Mathew Zachariah, Mojgan Rastegar

“…A well-known link between epigenetics and human disease is the X-linked MECP2 gene, mutations in which lead to the neurological disorder, Rett Syndrome. …”
Get full text

Sécurité aux frontières : Portée et limites de la stratégie algérienne by Abdennour Benantar

“…Despite its contribution to securing the border strip, however, this strategy is still limited for several reasons: the State-centric orientation found whenever dealing with specific issues; the inoperativeness of some cardinal principles in an evolving context characterized by the affirmation of non-state actors; the mutations of the terrorist phenomenon; a highly unstable regional context; a lack of strategic convergence in the region.…”
Get full text

Acetylation of the yeast Hsp40 chaperone protein Ydj1 fine-tunes proteostasis and translational fidelity. by Siddhi Omkar, Megan M Mitchem, Joel R Hoskins, Courtney Shrader, Jake T Kline, Nitika, Luca Fornelli, Sue Wickner, Andrew W Truman

“…This study aims to elucidate the role of lysine acetylation on the yeast Hsp40, Ydj1. By mutating acetylation sites on Ydj1's J-domain to either abolish or mimic constitutive acetylation, we observed that preventing acetylation had no noticeable phenotypic impact, whereas acetyl-mimic mutants exhibited various defects indicative of impaired Ydj1 function. …”
Get full text

Genotype-phenotype insights of pediatric dilated cardiomyopathy by Ying Dai, Yan Wang, Youfei Fan, Bo Han

“…Future research should further explore novel pathogenic genes and mutations and strengthen genotype-phenotype correlation analyses to facilitate precise diagnosis and treatment of DCM in children.…”
Get full text

Pyruvate Kinase Deficiency Causing Priapism by Vinay Hanyalu Shankar, Bharadwaj Adithya-Sateesh, Nicole Gousy, Girma Ayele, Freyr Petursson, Rediet Atalay, Miriam Michael

“…Diagnosis is usually made by demonstration of decreased PK enzymatic activity in a spectrophotometric assay and on the detection of mutations in the PK-LR gene. Management strategies vary from full splenectomies to hematopoietic stem cell transplants with gene therapies with transfusions and administration of PK-activators coming in between. …”
Get full text

Serologic Investigations in Children with Inflammatory Bowel Disease and Food Allergy by Urszula Grzybowska-Chlebowczyk, Halina Woś, Aleksander L. Sieroń, Sabina Więcek, Aleksandra Auguściak-Duma, Halina Koryciak-Komarska, Joanna Kasznia-Kocot

“…We observed a connection between the occurrence of antibodies and the examined mutations of gene NOD2/CARD15.…”
Get full text

Current Status of Comprehensive Chromosome Screening for Elective Single-Embryo Transfer by Ming-Yih Wu, Kuang-Han Chao, Chin-Der Chen, Li-Jung Chang, Shee-Uan Chen, Yu-Shih Yang

“…Throughout the past few years, we have got a big leap in advancement of the genetic screening of embryos on aneuploidy, translocation, or mutations. This facilitates a higher success rate in IVF accompanied by the policy of elective SET (eSET). …”
Get full text

Antiviral compounds in marine algae, soft coral and sponge: a systematic review by Tri Wahyu Setyaningrum, Dining Aidil Candri, Mursal Ghazali, Eka Sunarwidhi Prasedya, Faturrahman Faturrahman, Rozikin Rozikin

“…Diseases caused by viruses are always evolving due to the mutating nature of viruses and are still a threat to the health world today. …”
Get full text

Effect of genomic regions harboring putative lethal haplotypes on reproductive performance in closed experimental selection lines of Nellore cattle by Gustavo R. D. Rodrigues, Joslaine N. S. G. Cyrillo, Lúcio F. M. Mota, Patrícia I. Schmidt, Júlia P. S. Valente, Eduarda S. Oliveira, Lúcia G. Albuquerque, Luiz F. Brito, Maria E. Z. Mercadante

“…Abstract Lethal alleles are mutations in the genome that cause embryonic losses in affected homozygous embryos and, therefore, can negatively influence reproduction rates in commercial populations. …”
Get full text

Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing by Deepak N. Subramanian, Maia Zethoven, Kathleen I. Pishas, Evanny R. Marinović, Simone McInerny, Simone M. Rowley, Prue E. Allan, Lisa Devereux, Dane Cheasley, Paul A. James, Ian G. Campbell

“…PALB2 and ATM validate as HGSOC predisposition genes, with 6/8 germline carrier tumours exhibiting biallelic inactivation accompanied by characteristic mutational signatures. Among candidate genes, only LLGL2 consistently shows biallelic inactivation and protein expression loss, supporting it as a novel HGSOC susceptibility gene. …”
Get full text

Exploring force-driven stochastic folding dynamics in mechano-responsive proteins and implications in phenotypic variation by Pritam Saha, Vishavdeep Vashisht, Ojas Singh, Amin Sagar, Gaurav Kumar Bhati, Surbhi Garg, Sabyasachi Rakshit

“…Abstract Single-point mutations are pivotal in molecular zoology, shaping functions and influencing genetic diversity and evolution. …”
Get full text

Type III Mixed Cryoglobulinemia and Antiphospholipid Syndrome in a Patient With Partial DiGeorge Syndrome by Alice D. Chang, Raffi Tachdjian, Kerry Gallagher, Deborah K. McCurdy, Charles Lassman, E. Richard Stiehm, Ora Yadin

“…Coagulation studies revealed homozygous methylene tetrahydrofolate reductase 677TT mutations, elevated cardiolipin IgM antibodies, and elevated β2-glycoprotein I IgM antibodies. …”
Get full text