Resolution of unilateral sensorineural hearing loss in a pediatric patient with a severe phenotype of Muckle-Wells syndrome treated with Anakinra: a case report and review of the l... by Cinzia Marchica, Faisal Zawawi, Dania Basodan, Rosie Scuccimarri, Sam J. Daniel

“…Of note, the patient’s history was significant for conductive hearing loss, speech delay, as well as recurrent acute otitis media episodes. Genetic analysis was performed and diagnosis of MWS was confirmed due to the presence of a NLRP3 gene mutation. …”
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TACSTD2 in gelatinous drop-like corneal dystrophy: variant functional analysis and expression in the cornea after limbal stem cell transplantation by Liubov O. Skorodumova, Ekaterina N. Grafskaia, Daria D. Kharlampieva, Dmitry I. Maltsev, Tatiana V. Petrova, Alexandra V. Kanygina, Elena V. Fedoseeva, Pavel V. Makarov, Boris E. Malyugin

“…We present the case of a patient with GDLD. Genetic analysis revealed a homozygous deletion, NM_002353.3:c.653del, in the TACSTD2 gene. …”
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Characteristic external genitalia in male neonates with 5α-reductase deficiency by Takeshi Munenaga, Yosuke Ichihashi, Satsuki Nakano, Hironori Shibata, Takeshi Sato, Hiroshi Asanuma, Keiko Homma, Tomonobu Hasegawa, Tomohiro Ishii

“…This study enrolled 31 Japanese cases of 46,XY DSD whose external genitalia was examined during the neonatal period; four were diagnosed as 5αRD and 15 were defined as non-5αRD by genetic analysis of SRD5A2 or urinary steroid metabolites. …”
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Examining the Formalin Fixation Method for Maintaining High RNA Quality in Surgical Lung Specimens by Takashi Teishikata, Manabu Itoh, Yusuke Okamoto, Naofumi Miyahara, Chiho Nakashima, Koichiro Takahashi, Masafumi Hiratsuka, Keita Kai, Keiji Kamohara

“…No significant difference was observed in nucleic acid concentration. The multiplex genetic analysis success rate was 95% with conventional methods (one failure); however, it was 100% with the sheet‐like fixation method. …”
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Sleep quality among sample of Egyptian patients with Alzheimer’s disease: risk factors and role of genetic profiling for ACE, ACE 2 and APO E genotypes by Khaled Ahmed Elbeh, Mohamed Abdala Abbas, Mohammed H. Hassan, Mohamed Moslem Hefny, Shimaa Fathy Sakr, Reham Bakry Mohamed, Mahmoud Ahmed Bekiet, Tarek Desoky

“…They were accordingly divided into good as well as poor sleep quality groups. Genetic analysis of ACE, ACE2 (rs2285666) SNPs and Apo E (rs121918398) SNPs was done using (RFLP-PCR) I. …”
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Germline Mutation in KIF1Bβ Gene Associated with Loss of Heterozygosity: Usefulness of Next-Generation Sequencing in the Genetic Screening of Patients with Pheochromocytoma by Giuseppina De Filpo, Elisa Contini, Viola Serio, Andrea Valeri, Massimiliano Chetta, Daniele Guasti, Daniele Bani, Massimo Mannelli, Elena Rapizzi, Michaela Luconi, Mario Maggi, Tonino Ercolino, Letizia Canu

“…To date, performing the genetic analysis according to the latest Consensus Statement is mandatory in patients affected by PHEO/PGL.…”
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A novel de novo GABRA2 gene missense variant causing developmental epileptic encephalopathy in a Chinese patient by Li Yang, Xingyu Wan, Ran Hua, Junhong Jiang, Baotian Wang, Rui Tao, De Wu

“…This study presents the clinical presentation and genetic analysis of a Chinese family with a child diagnosed with DEE78, due to a novel GABRA2 variant. …”
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Investigating ITM2B‐associated ataxia in a Taiwanese cerebellar ataxia cohort by Shih‐Yu Fang, Cheng‐Tsung Hsiao, Kang‐Yang Jih, Yu‐Sheun Tsai, Kuan‐Lin Lai, Cheng‐Ta Chou, Yi‐Chu Liao, Yi‐Chung Lee

“…This study aims to investigate the role of ITM2B variations in a Taiwanese cohort with unsolved cerebellar ataxia. Methods Genetic analysis of ITM2B was performed in 212 unrelated Taiwanese patients with unsolved cerebellar ataxia. …”
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Genetic influences on non-syndromic cleft lip palate: The impact of BMP4, RUNX2, PAX7, and TGFB3 allelic variations by Praveen Kumar Neela, Rajeshwari B.V, Mahamad Irfanulla Khan, Shahistha Parveen Dasnadi, Gosla Srinivas Reddy, Akhter Husain, Vasavi Mohan

“…The isolated DNA was sent for genetic analysis by Single Nucleotide Polymorphism (SNP) genotyping using the MassArray method. …”
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Plasmodium Falciparum Genetic Diversity and Multiplicity of Infection Among Asymptomatic and Symptomatic Malaria-Infected Individuals in Uganda. by Mwesigwa, Alex, Ocan, Moses, Cummings, Bryan, Musinguzi, Benson, Kiyaga, Shahid, Kiwuwa, Steven M., Okoboi, Stephen, Castelnuovo, Barbara, Bikaitwoha, Everd Maniple, Kalyango, Joan N., Karamagi, Charles, Nankabirwa, Joaniter I., Nsobya, Samuel L., Byakika‐Kibwika, Pauline

“…Genetic data analysis was performed using appropriate genetic analysis software. Results P. falciparum infections exhibited high genetic diversity in both asymptomatic and symptomatic individuals. …”
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Identification of Candidate Genes for Green Rind Color in Watermelon by Wei Zhou, Licong Yi, Yunqiang Wang, Hongsheng Wang, Qingke Li, Na Wu, Zhaoyi Dai

“…The color of the rind is one of the most crucial agronomic characteristics of watermelon (<i>Citrullus lanatus</i> L.). Its genetic analysis was conducted to provide the identification of genes regulating rind color and improving the quality of watermelon appearance. …”
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The ichthyofauna of the upper Neretva River by Jakob Neuburg, Thomas Friedrich, Elisabeth Haring, Sarah Höfler, Ana Maric, Saša Marić, Stephanie Popp, Predrag Simonović, Aleš Snoj, Simona Sušnik Bajec, Simon Vitecek, Alexandra Wanka, Steven Weiss, Kurt Pinter

“…Evidence of the endangered softmouth trout (Salmo obtusirostris) was obtained as well as the presence of other native and non-native salmonids. Genetic analysis suggests that the native brown trout (Salmo trutta) in the upper Neretva is homogeneous with no significant introgression by introduced Atlantic-lineage brown trout and quantitative catch data show that their populations are healthy with densities above 1,000 ind/ha. …”
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De novo assembly and analysis of the transcriptome of the Siberian wood frog Rana amurensis by D. N. Smirnov, S. V. Shekhovtsov, A. A. Shipova, G. R. Gazizova, E. I. Shagimardanova, N. A. Bulakhova, E. N. Meshcheryakova, T. V. Poluboyarova, E. E. Khrameeva, S. E. Peltek, D. I. Berman

“…To make the Siberian wood frog more amenable for genetic analysis, we performed transcriptome sequencing and de novo assembly for the R. amurensis brain under hypoxia and normoxia, as well as for the normoxic heart. …”
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The pattern of genetic diversity of different breeds of pigs based on microsatellite analysis by V. R. Kharzinova, N. A. Zinovieva

“…One of the main tasks of genetics and animal breeding is the assessment of genetic diversity and the study of genetic relationships between different breeds and populations using molecular genetic analysis methods. We analysed the polymorphism of microsatellites and the information on the state of genetic diversity and the population structure of local breeds in Russia: the Kemerovo, the Berkshire, the Liven, the Mangalitsa, and the Civilian; in the Republic of Belarus: the Large White and the Black-and-White; and in Ukraine: the White Steppe, as well as commercial breeds of imported origin of domestic reproduction: the Large White, the Landrace, and the Duroc. …”
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Mutational Analysis of KCNQ1 Gene in Type 2 Diabetes Mellitus: A Case-control Study by Ankush Ganjewar, Ishwar B Bagoji, Sharan Badiger, Rudragouda B Bulagouda, Gurushnatappa Kadakol

“…A total of 30 peripheral blood samples were collected from the T2DM and 30 samples of healthy controls, and then subjected to genetic analysis. Amplification of DNA products were analysed using Sanger-based DNA sequencing. …”
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Identification of two new genetic loci for high-resolution genotyping of Enterocytozoon bieneusi by Meng Xinan, Ou Yonglin, Jiang Wen, Guo Yaqiong, Xiao Lihua, Feng Yaoyu, Li Na

“…However, the use of only five loci was insufficient for population genetic analysis of E. bieneusi from diverse hosts. In this study, comparison of a clinical genome sequence (C44566) with the whole genome sequence of an E. bieneusi isolate (H348) in GenBank led to the selection of the hypothetical protein 1 (hp1) and tubulin 1 (tub1) loci. …”
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A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood Stage by Tatsuya Akitomo, Noriko Niizato, Ami Kaneki, Masashi Ogawa, Taku Nishimura, Mariko Kametani, Momoko Usuda, Yuko Iwamoto, Chieko Mitsuhata, Ryota Nomura

“…She started enzyme replacement therapy 6 days after birth, and genetic analysis later confirmed the diagnosis of HPP. …”
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Role of Prothrombin and Methylenetetrahydrofolate Reductase Gene Polymorphisms as well as Thrombophilia Markers, as Risk Factors for Unexplained Recurrent Miscarriage: A Case-Contr... by Zeinab Ahmed Abd Elhameed, Omar M Shaaban, Hanan G Abd Elazeem, Azza Abouelfadle, Tarek Farghaly, Ghada Mahran, Mohamed Ismail Seddik

“…We also evaluated association between protein C (PC), protein S (PS), antithrombin III (ATIII), and homocystienewith RM.Materials and Methods: We conducted a case-control study on women with history of miscarriages and healthycontrols. Genetic analysis was done using (TaqMan) polymerase chain reaction (PCR) technique and the othertests were performed to check general health indications and thrombophilia markers.Results: In this study, 195 RM group (group I) participants and 90 healthy controls (group II), PC, PS, ATIII deficiencyand Hyperhomocysteinemia were in 7.2, 65.6, 9.2, 10.8% of group I respectively, but was 1.1, 7.8, 2.2, 2.2% of groupII. …”
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Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa by You Na Kim, Yoon Jeon Kim, Chang Ahn Seol, Eul-Ju Seo, Joo Yong Lee, Young Hee Yoon

“…In conclusion, our genetic analysis using targeted NGS provides information about the prevalence of RP-associated mutations in Korean patients. …”
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Pseudomonas cold shock proteins suppress bacterial effector translocation in Nicotiana benthamiana by Shen Cong, Jun-Zhou Li, Mei-Ran Zhang, Mei-Ran Zhang, Hai-Lei Wei, Wei Zhang

“…Transient expression of these CSPs neither induced reactive oxygen species (ROS) production nor suppressed the hypersensitive response (HR) in N. benthamiana, however, it restricted bacterial effector translocation. Genetic analysis revealed that these CSPs did not contribute to the ROS burst or HR inhibition in vivo but were functionally redundant in suppressing effector translocation in a flagellin (FliC)-independent manner. …”
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