Reduction of elevated Gli3 does not alter the progression of autosomal recessive polycystic kidney disease by Lauren G. Russell, Maria Kolatsi‐Joannou, Laura Wilson, Jennifer C. Chandler, Nuria Perretta Tejedor, Georgie Stagg, Karen L. Price, Christopher J. Rowan, Tessa Crompton, Norman D. Rosenblum, Paul J. D. Winyard, David A. Long

“…We utilized Cpk mice which phenocopy ARPKD and generated a PKHD1‐mutant spheroid model in human collecting ducts. Significantly elevated levels of the Hh transcriptional effector Gli3 were found in Cpk mice, a finding replicated in PKHD1‐mutant spheroids. …”
Get full text

Impaired peroxisomal beta-oxidation in microglia triggers oxidative stress and impacts neurons and oligodendrocytes by Ali Tawbeh, Catherine Gondcaille, Fatima-Ezzahra Saih, Quentin Raas, Damien Loichot, Yannick Hamon, Céline Keime, Alexandre Benani, Francesca Di Cara, Mustapha Cherkaoui-Malki, Pierre Andreoletti, Stéphane Savary

“…Exposure to CM from LPS-stimulated mutant microglial cells significantly increased apoptosis in both cell types. …”
Get full text

ON UNIFICATION OF DESCRIPTIVE NOMENCLATURE OF INFLORESCENCE MORPHOLOGY FOR BREEDING OF LEGUMES by A. A. Sinjushin

“…The given terms may be applied for characterization of inflorescence morphology both in normal and mutant plants. We give a simplified classification of synflorescence types in legume crops of Russia and bordering countries basing on the features of a floral unit.…”
Get full text

Mitochondrial targeting of Candida albicans SPFH proteins and requirement of stomatins for SDS-induced stress tolerance by Hyunjeong Kim, Marienela Y. Heredia, Xiao Chen, Maisha Ahmed, Mohammad Qasim, Tracy L. Callender, Aaron D. Hernday, Jason M. Rauceo

“…In addition, slp2Δ/Δ and slp2Δ/Δ/slp3Δ/Δ mutant strains were slightly resistant to the antifungal drug, fluconazole. …”
Get full text

Prospective analysis of the effects of RAS mutation on local tumor progression and overall survival after radiofrequency ablation for colorectal liver metastases by Ji-Chen Wang, Yu-Hui Liu, Bin-Bin Jiang, Li-Jin Shao, Song Wang, Wei Yang, Wei Wu, Kun Yan, Zhong-Yi Zhang

“…Compared with the RAS-wild-type group, the RAS-mutant group had a higher 2-year cumulative LTP rate (20.0% vs. 9.8%, p = 0.016) and a worse 2-year OS rate (55.7% vs. 79.8%, p < 0.001). …”
Get full text

Functional analysis of a novel homozygous missense IVD gene variant: a case report with dual genetic diagnoses by Yuying Zhu, Ke Wu, Hanying Wen

“…Functional analysis of the IVD variant in vitro was performed. Mutant IVD gene pcDNA3.1(+)-MUT-3xFlag and control pcDNA3.1(+)-WT-3xFlag mammalian expression vectors were constructed. …”
Get full text

Glycosylation of ceramide synthase 6 is required for its activity by Alexandra J. Straus, Grace Mavodza, Can E. Senkal

“…Our data show that cells stably expressing the N18A mutant CerS6 had significantly lower activity in vitro and in situ as compared to WT CerS6 expressing cells. …”
Get full text

Understanding retinal tau pathology through functional 2D and 3D iPSC-derived in vitro retinal models by Lorenza Mautone, Federica Cordella, Alessandro Soloperto, Silvia Ghirga, Giorgia Di Gennaro, Ylenia Gigante, Silvia Di Angelantonio

“…Both 2D and 3D tau-mutant retinal models demonstrated an imbalance in tau isoforms, favoring 4R tau, along with increased tau phosphorylation, altered neurite morphology, and impaired cytoskeletal maturation. …”
Get full text

The piRNA protein Asz1 is essential for germ cell and gonad development in zebrafish and exhibits differential necessities in distinct types of germ granules. by Adam Ahmad, Yoel Bogoch, Gal Shvaizer, Noga Guler, Karine Levy, Yaniv M Elkouby

“…Increased transposon expression and mis-organized piRNA granules in asz1 mutants, argue that zebrafish Asz1 functions in the piRNA pathway. …”
Get full text

Aspects of applying the method of chemical mutagenesis to develop cultivars of <i>Calendula officinalis</i> L. by F. M. Khazieva, I. N. Korotkikh

“…As a result of a long-term breeding process (2009–2016), new varieties were developed on the basis of mutant generations M2–M3 : cvs. ‘Zolotoe more’ and ‘Rajskij sad’, both exceeding cv. …”
Get full text

Pivotal roles of melanopsin containing retinal ganglion cells in pupillary light reflex in photopic conditions by Jeremy Matthew Bohl, Abdul Rhman Hassan, Zachary J. Sharpe, Megi Kola, Angela Shehu, Deborah Langrill Beaudoin, Tomomi Ichinose

“…We also conducted these measurements using the rod &amp; cone dysfunctional mice (Gnat1–/– &amp; Cnga3–/–:dKO) to compare the results to published studies in which mutant mice were used to show the role of photoreceptors and ipRGCs in PLR. …”
Get full text

A central role for Foxp3+ regulatory T cells in K-Ras-driven lung tumorigenesis. by Courtney A Granville, Regan M Memmott, Andria Balogh, Jacopo Mariotti, Shigeru Kawabata, Wei Han, Jaclyn Lopiccolo, Jason Foley, David J Liewehr, Seth M Steinberg, Daniel H Fowler, M Christine Hollander, Phillip A Dennis

“…<h4>Methods</h4>Lung tumorigenesis was studied in three murine models that depend on mutant K-Ras; a tobacco carcinogen-driven model, a syngeneic inoculation model, and a transgenic model. …”
Get full text

Extensive In Silico Analysis of ATL1 Gene : Discovered Five Mutations That May Cause Hereditary Spastic Paraplegia Type 3A by Mujahed I. Mustafa, Naseem S. Murshed, Abdelrahman H. Abdelmoneim, Miyssa I. Abdelmageed, Nafisa M. Elfadol, Abdelrafie M. Makhawi

“…Additionally; we submitted the common six deleterious outcomes from the previous functional analysis tools to I-mutant 3.0 and MUPro, respectively, to investigate their effect on the structural level. …”
Get full text

A Nonsynonymous Single-nucleotide Polymorphism in SLC24A5 Regulates Feather Pigment Deposition in Chinese Yellow Quail by Xiaohui Zhang, Fanghu Wu, Yanxia Qi, Yuanyuan Shang, Lingyun Fan, Yifei Wang

“…Mutant individuals had significantly lower total melanin content in the feathers and tyrosinase activity in dorsal skin, in spite of no significant difference in SLC24A5 mRNA expression in the same tissues. …”
Get full text

A COMPARATIVE STUDY OF SPRING TRITICALE VARIETIES IN THE WESTERN SIBERIAN FOREST-STEPPE ZONE UNDER DIFFERENT CONDITIONS OF VEGETATION by A. Cheshkova, P. Stepochkin, A. Aleynikov, I. Grebennikova, D. Chanyshev

“…The highest grain productivity of varieties was obtained for the 15 May sowing date at the 400 seeds per m2 sowing rate. The three mutant forms used in the experiment showed a lower level of adaptability in comparison with the variety Ukro.…”
Get full text

p104 Binds to Rac1 and Reduces Its Activity during Myotube Differentiation of C2C12 Cell by Ki Young Choi, Min Sup Lee, Young Jun Cho, Myong Ho Jeong, Seung Jin Han, Seung Hwan Hong

“…However, neither the proline-rich domain mutant, which is unable to interact with CrkII, nor the carboxy-terminal deletion mutant could attenuate Rac1 activity. …”
Get full text

Loss of BRCA1 Spontaneously Induces the Tumorigenesis in Lacrimal Gland by Sun Eui Kim, Hye Jung Baek, Eun Jung Park, Sung Chul Lim, Sang Soo Kim

“…These tumors, which were detected in seven mutant mice that displayed exophthalmoses, were malignant, originated from epithelial cells, and were identified as acinic cell carcinoma by pathological analysis. …”
Get full text

Assessing bnAb potency in the context of HIV-1 envelope conformational plasticity. by Caio Foulkes, Nikolas Friedrich, Branislav Ivan, Emanuel Stiegeler, Carsten Magnus, Daniel Schmidt, Umut Karakus, Jacqueline Weber, Huldrych F Günthard, Chloé Pasin, Peter Rusert, Alexandra Trkola

“…Including 19 of these mutants into a Sensitivity Env mutant panel (SENSE-19), we classified bnAbs according to potency variations in response to trimer opening. …”
Get full text

Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children by Le Xie, Yue Qiu, Yuan Jin, Kai Xu, Xue Bai, Xiao-Zhou Liu, Xiao-Hui Wang, Sen Chen, Yu Sun

“…By use of 127 gene panel testing, more mutant genes and variants were identified. The most frequent mutant genes were GJB2, SLC26A4, MYO15A, CDH23, and OTOF. …”
Get full text

Dysfunction of ATP7B Splicing Variant Caused by Enhanced Interaction With COMMD1 in Wilson DiseaseSummary by Donghu Zhou, Huaduan Zi, Xiaoxi Yang, Xiaojin Li, Yanmeng Li, Anjian Xu, Bei Zhang, Wei Zhang, Xiaojuan Ou, Jidong Jia, Jian Huang, Hong You

“…The ATP7B knockout HuH-7 cell line and Atp7b-/- mice were created, and the functional consequence of the mutant ATP7B were evaluated in vitro and in vivo. …”
Get full text