Dual Functions of the C5a Receptor as a Connector for the K562 Erythroblast-Like Cell-THP-1 Macrophage-Like Cell Island and as a Sensor for the Differentiation of the K562 Erythrob... by Hiroshi Nishiura, Rui Zhao, Tetsuro Yamamoto

“…Conversely, the differentiation was repressed following the overexpression of mutant RP S19. An RP S19 oligomer inhibitor and a C5aR inhibitor blocked the association of the K562 basophilic EB-like cells and the THP-1 macrophage-like cells under coculture conditions. …”
Get full text

Clinical and genetic analysis of a Chinese family with GM1 gangliosidosis caused by a novel mutation in GLB1 gene by Biao Zhang, Xiao-li Huang, Xin-xin Lu, Heng-bin Huang, Yan-an Wu

“…A reported missense mutation c.446C>T and a novel mutation c.1058_1059delinsAA in GLB1 gene inherited from the mother and father respectively were identified. The mutant c.1058_1059delinsAA retained β-galactosidase activity at 0% of wild-type GLB1.ConclusionThis study identified a novel mutation of the GLB1 gene in a Chinese family with GM1 gangliosidosis and provided new insights into the molecular characteristics and genetic counseling of GM1 gangliosidosis.…”
Get full text

OsHMA3 overexpression works more efficiently in generating low-Cd rice grain than OsNramp5 knockout mutation by Yuejing Gui, Joanne Teo, Dongsheng Tian, Raji Mohan, Zhongchao Yin

“…However, these mutants still had much higher grain Cd content than the previously reported OsNramp5 mutants or the OsHMA3 overexpression lines developed in our previous study. …”
Get full text

Co(II) Coordination in Prokaryotic Zinc Finger Domains as Revealed by UV-Vis Spectroscopy by Valeria Sivo, Gianluca D’Abrosca, Luigi Russo, Rosa Iacovino, Paolo Vincenzo Pedone, Roberto Fattorusso, Carla Isernia, Gaetano Malgieri

“…Here, exploiting the capability of the prokaryotic zinc finger to use different combinations of residues to properly coordinate the structural metal ion, we provide the UV-Vis characterization of Co(II) addition to Ros87 and its mutant Ros87_C27D which bears an unusual CysAspHis2 coordination sphere. …”
Get full text

Transcription factor Hap2p regulates antioxidant stress responses to maintain miconazole resistance in Candida albicans by Yulin Qin, Quanzhen Lv, Hongtao Xu, Yongbing Cao, Bing Han

“…The screening results showed that hap2Δ/Δ mutants were significantly more susceptible to azoles, especially to miconazole (MCZ). …”
Get full text

First molecules to reactivate RASG12V GTPase activity by Aneta Wlodarczyk, Cezary Treda, Marcin Pacholczyk, Adrianna Rutkowska, Marta Wegierska, Amelia Kierasinska-Kalka, Katarzyna Wasiak, Damian Ciunowicz, Dagmara Grot, Pawel Glowacki, Ewelina Stoczynska-Fidelus, Piotr Rieske

“…The work also indicates that the model of action of RAS mutants in cell lines is incomplete. The analysed cell line (SW-480) with RAS mutations does not always show increased ERK and AKT activity. …”
Get full text

Phylogenetic and structural analysis of annexins in pea (<i>Pisum sativum</i> L.) and their role in legume-rhizobial symbiosis development by O. A. Pavlova, I. V. Leppyanen, D. V. Kustova, A. D. Bovin, E. A. Dolgikh

“…Essential down-regulation of PsAnn4 synthesis in a non-nodulating pea mutant P56 (sym10) suggests an involvement of this annexin in the rhizobial symbiosis. …”
Get full text

Leaf spot resistance in sweet and sour cherries by M. S. Lenivtseva, A. P. Kuznetsova, E. E. Radchenko

“…The alleles of the resistance genes in these plants are not identical to the resistance alleles in the genotypes Seyanets No. 1, Mutant 561, ‘Almaz’, Kusumkent 8, Vetrovoe 11 (P. kurilensis Miyabe), and BG-35 (P. sargentii Rehd.), all used in breeding. …”
Get full text

Iron metabolism in a mouse model of hepatocellular carcinoma by Dilay Yilmaz, Umesh Tharehalli, Rossana Paganoni, Paul Knoop, Andreas Gruber, Yuexin Chen, Rui Dong, Frank Leithäuser, Thomas Seufferlein, Kerstin Leopold, André Lechel, Maja Vujić Spasić

“…A transcriptome analysis of liver carcinoma was employed to identify p53-dependent gene expression signatures with subsequent in-depth analysis of iron metabolic parameters being conducted locally within liver cancers and at systemic levels. We show that all mutant mice developed liver cancer by 36-weeks of age in contrast to 3.4% tumors identified in control mice. …”
Get full text

Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene by Salma M. Wakil, Dorota Monies, Samya Hagos, Fahad Al-Ajlan, Josef Finsterer, Aisha Al Qahtani, Khushnooda Ramzan, Rawan Al Humaidy, Mohamed A. Al-Muhaizea, Brian Meyer, Saeed A. Bohlega

“…In addition, we confirmed that the mutant FAM134B transcripts were reduced in these patients presumably disrupting the receptors of the degradative endoplasmic reticulum pathways that facilitate the autophagy processes.…”
Get full text

Interaction of genes determining the spike shape of wheat and located in 5AL chromosome by A. V. Simonov, T. A. Pshenichnikova, I. F. Lapochkina, N. Watanabe

“…It was mapped to 5AL chromosome in bread wheat line ANBW-5A and the donor of the gene was a mutant of durum wheat. In the present work, spike length, spikelet number, index of spike density and stem length were studied in F1 , F2 and F3 of three different hybrid populations. …”
Get full text

Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular Dystrophy by Qin Xiang, Yanna Cao, Hongbo Xu, Zhijian Yang, Liang Tang, Ju Xiang, Jianming Li, Hao Deng, Lamei Yuan

“…This study enlarged the MFSD8 gene mutant spectrum and might provide more accurate genetic counseling for this family.…”
Get full text

Investigating the functional and structural effect of non-synonymous single nucleotide polymorphisms in the cytotoxic T-lymphocyte antigen-4 gene: An in-silico study. by Md Mostafa Kamal, Kazi Fahmida Haque Shantanu, Shamiha Tabassum Teeya, Md Motiar Rahman, A K M Munzurul Hasan, Douglas P Chivers, Tanveer A Wani, Atekah Hazzaa Alshammari, Mahesh Rachamalla, Francisco Carlos da Silva Junior, Md Munnaf Hossen

“…Furthermore, mCSM and DynaMut2 analyses indicated a decrease in ΔΔG stability for the mutants. GeneMANIA and STRING networks highlighted correlations with CD86 and CD80 genes. …”
Get full text

The mutational landscape of Staphylococcus aureus during colonisation by Francesc Coll, Beth Blane, Katherine L. Bellis, Marta Matuszewska, Toska Wonfor, Dorota Jamrozy, Michelle S. Toleman, Joan A. Geoghegan, Julian Parkhill, Ruth C. Massey, Sharon J. Peacock, Ewan M. Harrison

“…We identified a nasD natural mutant with enhanced growth under urea as the sole nitrogen source. …”
Get full text

Analysis of the VERNALIZATION-A1 exon-4 polymorphism in polyploid wheat by A. F. Muterko, E. A. Salina

“…With the exception of one accession, the mutant type of exon-4 was identified only in combination with the wild type. …”
Get full text

Spontaneous Complete Regression of Colon Cancer Liver Metastases in a Lung Transplant Patient: A Case Report by Koen Zwart, Dieuwertje Ruigrok, Magda de Graaf-Bos, Roel Goldschmeding, Miriam Koopman, Guus M. Bol

“…Histopathologic analysis revealed that the primary tumor and liver metastases were mismatch repair-deficient (BRAFV600E mutant and MLH1/PMS2-deficient), also known as a microsatellite instable tumor. …”
Get full text

Identification of p53 and Its Isoforms in Human Breast Carcinoma Cells by Zorka Milićević, Vladan Bajić, Lada Živković, Jelena Kasapović, Uroš Andjelković, Biljana Spremo-Potparević

“…One of the most intriguing findings is that mutant p53 appears as discrete dot-shaped regions within the nucleus of breast cancer cells. …”
Get full text

Influence of allelic polymorphism in the 3’ untranslated region of the <i>StTCP23</i> gene on the tolerance of potato cultivars to the potato spindle tuber viroid by N. V. Mironenko, A. V. Kochetov, O. S. Afanasenko

“…‘Krepysh’, ‘Labadia’ and ‘Riviera’, classified as tolerant during primary inoculation, on the contrary, were characterized by the absence of the A allele and the presence of cultivar-specific mutant alleles.Conclusion. A high degree of polymorphism in the target site (3’ UTR region) of StTCP23 indicates a possible selection pressure on this locus. …”
Get full text

Endothelial SHANK3 regulates tight junctions in the neonatal mouse blood-brain barrier through β-Catenin signaling by Yong-Eun Kim, Minseong Kim, Sunwhi Kim, Raham Lee, Yusuke Ujihara, Esther Magdalena Marquez-Wilkins, Yong-Hui Jiang, Esther Yang, Hyun Kim, Changhoon Lee, Changwon Park, Il Hwan Kim

“…Although BBB permeability is restored during adult age, the male mutant mice display reduced neuronal excitability and impaired sociability. …”
Get full text

Positive and negative regulation of Gli activity by Kif7 in the zebrafish embryo. by Ashish Kumar Maurya, Jin Ben, Zhonghua Zhao, Raymond Teck Ho Lee, Weixin Niah, Ashley Shu Mei Ng, Audrey Iyu, Weimiao Yu, Stone Elworthy, Fredericus J M van Eeden, Philip William Ingham

“…Remarkably, zebrafish lacking all Kif7 function are viable, in contrast to the peri-natal lethality of mouse kif7 mutants but similar to some Acrocallosal or Joubert syndrome patients who are homozygous for loss of function KIF7 alleles.…”
Get full text