Peripheral nerve injury induces dystonia-like movements and dysregulation in the energy metabolism: A multi-omics descriptive study in Thap1+/− mice by Colette Reinhold, Susanne Knorr, Rhonda L. McFleder, Lisa Harder-Rauschenberger, Tom Gräfenhan, Andreas Schlosser, Michael Sendtner, Jens Volkmann, Chi Wang Ip

“…The disease is caused by mutations in the THAP1 gene, although the precise mechanisms by which these mutations contribute to the pathophysiology of dystonia remain unclear. …”
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Epigenetic variation in light of population genetic practice by Sarah A. Mueller, Justin Merondun, Sonja Lečić, Jochen B. W. Wolf

“…Abstract The evolutionary impact of epigenetic variation depends on its transgenerational stability and source - whether genetically determined, environmentally induced, or due to spontaneous, genotype-independent mutations. Here, we evaluate current approaches for investigating an independent role of epigenetics in evolution, pinpointing methodological challenges. …”
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Sacroiliitis and Polyarteritis Nodosa in a Patient with Familial Mediterranean Fever by Yunus Ugan, Atalay Doğru, Hüseyin Şencan, Mehmet Şahin, Şevket Ercan Tunç

“…The condition is known to be caused by mutations in the MEFV (Mediterranean FeVer) gene, located in the short arm of chromosome 16. …”
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Prenatally suspected and clinically diagnosed congenital chloride diarrhea by Mesfin Ayalew Tsegaye, MD, Abel Benti Abchale, MD, Alemayehu Nigusssie Adugna, MD

“…Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder resulting from mutations in the SLC26A3 gene, leading to significant electrolyte imbalances and watery diarrhea starting in the prenatal period. …”
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Gorlin-Goltz Syndrome by Padma Pandeshwar, K. Jayanthi, D. Mahesh

“…The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome—NBCCS) is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched) gene found on chromosome arm 9q. …”
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Complete Androgen Insensitivity Syndrome: A Rare Case of Disorder of Sex Development by Alfonsa Pizzo, Antonio Simone Laganà, Irene Borrielli, Nella Dugo

“…It depends on an X-linked mutations in the Androgen Receptor (AR) gene that express a variety of phenotypes ranging from male infertility to completely normal female external genitalia. …”
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Error-Prone Translesion DNA Synthesis by Escherichia coli DNA Polymerase IV (DinB) on Templates Containing 1,2-dihydro-2-oxoadenine by Masaki Hori, Shin-Ichiro Yonekura, Takehiko Nohmi, Petr Gruz, Hiroshi Sugiyama, Shuji Yonei, Qiu-Mei Zhang-Akiyama

“…These results indicate that Pol IV may be involved in ROS-enhanced A:T→G:C mutations.…”
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Fitness costs of Mycobacterium tuberculosis resistant to rifampicin is compensated by rapid Th2 polarization mediated by early and high IL-4 production during mice infection by Ma. Fernanda Arce-Aceves, Roberto Espinosa-Neira, Dulce A. Mata-Espinosa, Jorge A. Barrios-Payan, Hugo G. Castelán-Sánchez, Sofía L. Alcaraz-Estrada, Mauricio Castañón-Arreola, Rogelio Hernández-Pando

“…Abstract It was a general belief that drug resistance in Mycobacterium tuberculosis (Mtb) was associated with lesser virulence, particularly rifampicin resistance, which is usually produced by mutations in the RNA polymerase Beta subunit (RpoB). …”
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Non3 is an essential Drosophila gene required for proper nucleolus assembly by E. N. Andreyeva, A. A. Ogienko, A. A. Yushkova, J. V. Popova, G. A. Pavlova, E. N. Kozhevnikova, A. V. Ivankin, M. Gatti, A. V. Pindyurin

“…Complementation and phenotypic analyses showed that these Non3 mutations can be arranged in an allelic series that includes both viable and lethal alleles. …”
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HIV Drug Resistance Profile in Clients Experiencing Treatment Failure After the Transition to a Dolutegravir-Based First-Line Antiretroviral Treatment Regimen in Mozambique by Nalia Ismael, Cidia Hussein, Cacildo Magul, Humberto Inguane, Aleny Couto, Amancio Nhangave, Ana Muteerwa, Mahoudo Bonou, Artur Ramos, Peter Wesley Young, Sonia Chilundo, Rhoderick Machekano, Lauren Greenberg, Juliana da Silva, Nilesh Bhatt

“…Major drug resistance mutations to DTG included G118R (9.3%), R263K (6.6%), and Q148H/R/K (4.4%). …”
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From bench to bedside: Developing CRISPR/Cas-based therapy for ocular diseases by Qing Zhao, Linxin Wei, Youxin Chen

“…To date, active trials include treatments for primary open angle glaucoma with MYOC mutations, refractory herpetic viral keratitis, CEP290-associated inherited retinal degenerations, neovascular age-related macular degeneration, and retinitis pigmentosa with RHO mutations. …”
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Runs of homozygosity in spontaneous abortions from families with recurrent pregnancy loss by N. A. Skryabin, S. A. Vasilyev, T. V. Nikitina, D. I. Zhigalina, R. R. Savchenko, N. P. Babushkina, M. E. Lopatkina, A. A. Kashevarova, I. N. Lebedev

“…Homozygotization of recessive mutations is one of the putative mechanisms of the influence of such inherited ROHs on RPL development. …”
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Malignant phyllodes tumors with sarcomatous components: A histopathologic and molecular study by Ting Lei, Yunjie Song, Zhiyi Shen, Yongqiang Shi, Cunyan Xia, Xu Deng, Wenyue Da, Yan Peng, Qing Li

“…Conclusions: The presence of an osteosarcoma component may serve as an indicator for unfavorable prognosis. Activating mutations in TP53 have been identified in these tumors. …”
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Cortisol regulates neonatal lung development via Smoothened by Shanshan Lu, Yifei Chen, Jiawen Song, Liangliang Ren, Jun Du, Donglai Shen, Jiayin Peng, Yao Yin, Xia Li, Yuqing Wang, Yan Gao, Siman Han, Yichang Jia, Yun Zhao, Yizheng Wang

“…To explore the effect of cortisol action on the SHH pathway on neonatal lung development, we generated a genetic mouse, in which leucine 116 (L112 in human) of SMO was mutated to alanine 116 (L116A, Smo a/a ) by the CRISPR-Cas9, based on sequence differences between human and mice. …”
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Toward enhancement of antibody thermostability and affinity by computational design in the absence of antigen by Mark Hutchinson, Jeffrey A. Ruffolo, Nantaporn Haskins, Michael Iannotti, Giuliana Vozza, Tony Pham, Nurjahan Mehzabeen, Harini Shandilya, Keith Rickert, Rebecca Croasdale-Wood, Melissa Damschroder, Ying Fu, Andrew Dippel, Jeffrey J. Gray, Gilad Kaplan

“…We sought to determine whether DeepAb-designed variants containing combinations of beneficial mutations from the DMS exhibit enhanced thermostability and whether this optimization affected their developability profile. …”
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CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions by V. Montano, C. Simoncini, Cassi L. Calì, A. Legati, G. Siciliano, M. Mancuso

“…Later, it has been shown that the mutations in the same gene may present with adult-onset mitochondrial myopathy and mitochondrial DNA multiple deletions in skeletal muscle. …”
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Ileocecal Adenocarcinoma and Ureteral Transitional Cell Carcinoma with Multiple Sebaceous Tumors and Keratoacanthomas in a Case of Muir-Torre Syndrome by Michael C. Lynch, Bryan E. Anderson

“…Our case highlights the clinical advantages of immunohistochemistry (IHC) in identifying mutations in the mismatch repair (MMR) genes responsible for both HNPCC and MTS. …”
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Dupuytren's Contracture Cosegregation with Limb-Girdle Muscle Dystrophy by Baiba Lace, Inna Inashkina, Ieva Micule, Inta Vasiljeva, Maruta Solvita Naudina, Jurgis Strautmanis, Janis Stavusis, Eriks Jankevics

“…We hypothesize that patients may harbor mutations in genes with functions related to neuromuscular disease and Dupuytren's contracture development.…”
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The Role of Iron in the Pathophysiology and Treatment of Chronic Hepatitis C by Leslie Price, Kris V Kowdley

“…The presence of hemochromatosis gene mutations is associated with increased hepatic iron accumulation and may lead to accelerated disease progression. …”
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Cardiac involvement of Gorlin-Goltz syndrome: new light among the shadows of an old congenital disorder by Mihail Celeski, Andrea Segreti, Annunziata Nusca, Giuseppe Di Gioia, Raffaele Rinaldi, Gian Paolo Ussia, Francesco Grigioni

“… Mutations in the PTCH1, PTCH2, or SUFU genes cause the hereditary, autosomal dominant Gorlin-Goltz syndrome (GGS), which is characterized by high penetrance and variable expressivity. …”
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