Stage-specific expression and divergent functions of two insulinase-like proteases associated with host infectivity in Cryptosporidium. by Yue Huang, Shifeng Pei, Xin Lv, Fuxian Yang, Xiaoqing Gong, Na Li, Yaqiong Guo, Yaoyu Feng, Lihua Xiao

“…Although knockout of either had no detectable effect on the in vitro growth of C. parvum, knockout of INS-20, deletion of its multiple domains, or mutation of the active motif in the functional domain reduced the intensity of C. parvum infection in IFN-γ knockout mice. …”
Get full text

Microbes, macrophages, and melanin: a unifying theory of disease as exemplified by cancer by Stacie Z. Berg, Jonathan Berg

“…It is widely accepted that cancer mostly arises from random spontaneous mutations triggered by environmental factors. Our theory challenges the idea of the random somatic mutation theory (SMT). …”
Get full text

Gastroduodenal form of Crohn's disease by I. V. Mayev, D. N. Andreev, Yu. A. Kucheryavy

“…By the present time association of GDCD with L1007P mutation of NOD2/CARD15 gene is detected. Epigastric pain, loss of body weight, nausea and — in some cases — vomiting are the most frequent symptoms of this pathology. …”
Get full text

Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T by Josef Finsterer, Claudia Stöllberger, Matthias Hasun, Korbinian Riedhammer, Mathias Wagner

“…LVHT in association with a MYOT mutation has not been reported. The patient is a 72-year-old male with a history of strabismus in childhood, asymptomatic creatine-kinase elevation since age 42 years, slowly progressive lower limb weakness since age 60 years, slowly progressive dysarthria and dysphagia since age 62 years, and recurrent episodes of arthralgias and myalgias since age 71 years. …”
Get full text

Molecular Analysis of Activation-Induced Cytidine Deaminase Gene in Immunoglobulin-E Deficient Patients by Sergio Roa, Maria Isidoro-Garcia, Ignacio Davila, Elena Laffond, Felix Lorente, Rogelio Gonzalez-Sarmiento

“…We have analyzed the AICDA gene in these individuals to determine if there are mutations in AICDA that could lead to selective IgE deficiency. …”
Get full text

Young Woman with Unexplained Neutropenia and Neutrophils with Bilobed Nuclei: Marrow Findings by Martin Barnes, Victoria Shklar, Dipen Patel, Harry Staszewski

“…Germline testing in the LBR gene revealed a heterozygous pathogenic mutation, namely, the PR57837.17 variant, confirming the diagnosis of hereditary disease. …”
Get full text

The prediction of X2B6 monolayers with ultrahigh carrier mobility by Xiuzhi Du, Zhaoming Huang

“…In this investigation, a family of 2D material, X2B6 (X = K, Na and Rb), is predicted with puckered crystal structure by elemental mutation method. The dynamic and thermal stability of the X2B6 monolayer is addressed. …”
Get full text

Novel Implications in Molecular Diagnosis of Lynch Syndrome by Raffaella Liccardo, Marina De Rosa, Paola Izzo, Francesca Duraturo

“…The LS is associated with germline mutations in the DNA mismatch repair (MMR) genes. However, the mutation detection analysis of these genes does not always provide informative results for genetic counseling of LS patients. …”
Get full text

Absence of the Genetic Marker IS6110 from a Strain of Mycobacterium tuberculosis Isolated in Ontario by Susan T Howard, Matthew T Oughton, Albert Haddad, Wendy M Johnson

“…Drug-susceptibility testing indicated the strain was resistant to pyrazinamide (PZA), and a mutation was detected within pncA, a gene associated with PZA resistance. …”
Get full text

Genetic Algorithm-Enhanced Direct Method in Protein Crystallography by Ruijiang Fu, Wu-Pei Su, Hongxing He

“…The method features customized selection, crossover, and mutation strategies; premature convergence prevention; and efficient message passing interface (MPI) parallelization. …”
Get full text

EFFECT OF REARRANGEMENTS OF HOMOEOLOGOUS GROUP 2 CHROMOSOMES OF BREAD WHEAT ON SPIKE MORPHOLOGY by O. B. Dobrovol’skaya, P. Martinek, I. G. Adonina, E. D. Badaeva, Yu. L. Orlov, E. A. Salina, L. I. Laikova

“…The deletions were co-localized on the genetic map with the MRS1 gene, whose mutation caused the development of clusters of supernumerary spikelets at rachis nodes. …”
Get full text

Multiple Adenomatous Duodenal Polyposis by Zdena Zádorová, Jan Hajer, Václav Mandys

“…Afterwards we screened the patient for germline MYH mutations using the denaturing high-performance liquid chromatography (DHPLC) in combination with sequencing. …”
Get full text

A Case of Familial Mediterranean Fever with Extensive Lymphadenopathy and Complex Heterozygous Genotype Presenting in the Fourth Decade by Jawad Al-Khafaji, Fran Ganz-Lord, Venkata Rajesh Konjeti, Aaron D. Viny

“…Familial Mediterranean fever (FMF) is an inherited disease caused by loss of function mutations in the MEFV gene encoding pyrin, a negative regulator of interleukin-1. …”
Get full text

Melanoma genomics – will we go beyond BRAF in clinics? by Justyna Mirek, Wiesław Bal, Magdalena Olbryt

“…However, evaluating the oncogene BRAF mutation in codon V600 is still the only companion diagnostic genomic test commonly implemented in clinics for molecularly targeted treatment of advanced melanoma. …”
Get full text

Evaluating network test scenarios for network simulators systems by Anis Zarrad, Izzat Alsmadi

“…Second, introduce the concept of mutation testing to design the appropriate network scenarios to be used for protocol evaluation. …”
Get full text

Studying the factors affecting the karst zonation and development of Khorin Mountain using Fuzzy Logic. by Amir Saffari, Tayebeh Kiani, Sasan Zangenehtabar

“…Karstic zones play an important role in feeding the karstic aquifers؛ therefore, recognizing the factors affecting the karst mutation and its zonation in the field of studies concerned with karst water resources is of great concern. …”
Get full text

Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia by Jennifer L. Flint, Jill D. Jacobson

“…Sequencing of the DAX1 gene (named for dosage-sensitive sex reversal (DSS) locus and the AHC locus on the X chromosome) revealed a missense mutation. A review of the literature revealed that elevated 11-deoxycortisol levels have been noted in kindreds with DAX1 mutations, but only when measured very early in life. …”
Get full text

An Optimal Composition Strategy for Knowledge Service Component Based on Flexible Tracking Particle Swarm Algorithm by Yan-chao Yin, Fu-zhao Chen, Wei-zhi Liao, Cui-yin Liu

“…On this basis, a heuristic algorithm with the adaptive mutation probability is introduced to composite the multigranularity service component dynamically and robustly. …”
Get full text

Multifocal Pigmented Villonodular Synovitis in the Noonan Syndrome by Othmane Miri, Nicolas Bonnet, Philippe Lysy, Naima Loucheur, René Gayito, Pierre Louis Docquier

“…We report the case of an 8-year-old boy with a typical clinical picture of Noonan syndrome with a de novo germline mutation of PTPN11 (c.854 T>C). During his follow-up, the patient developed multifocal pigmented villonodular synovitis which first affected the left knee and shortly after both elbows.…”
Get full text

EGFR-Mutant Non-small Cell Lung Cancer: State-of-the-Art and Future Perspectives by Antonio Rossi, Ettore Mari

“…Osimertinib, a third-generation EGFR-TKI, can be considered the standard first-line therapy for the ‘common’ EGFR mutations, which include the exon 19 deletion and Leu858Arg point mutation in exon 21, accounting for 90% of cases. …”
Get full text