Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome by Liqin Huang, Yong Meng, Xiangming Guo

“…Our results further emphasize the importance of careful clinical and genetic analysis in determining mutation-disease associations and may lead to a better understanding of the role of PITX2 in ocular development.…”
Get full text

Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C ty... by Etienne Mondesert, Bastien Baud, Agathe Roubertie, Jean-François Benoist, Pierre-Edouard Grillet, Jean-Paul Cristol, Marie Céline Francois-Heude, Manuel Schiff, Stéphanie Badiou

“…Diagnosis was later confirmed by genetic analysis which identified two pathogenic variants on the MMACHC gene: c.271dupA (p.Arg91lysfs∗14) paternal allele and c.388T > C (p.Tyr130His) maternal allele. …”
Get full text

Clinical Characteristics of Three Cases with SAMD9/SAMD9L Gene Mutations by ZHU Ke, SUN Bijun, WANG Wenjie, ZHOU Qinhua, LIU Luyao, HOU Jia, WANG Xiaochuan, SUN Jinqiao

“…This study reports the clinical characteristics and genetic analysis of one case with SAMD9 mutation (c.3809T > A, p.F1270Y) and two cases with SAMD9L mutations (c.2675T > G, p.M892R; c.1096T > G, p.F366V and c.4517T > C, p.L1506p), none of which have been previously reported. …”
Get full text

RHOBTB2 Variant p.Arg511Gln Causes Developmental and Epileptic Encephalopathy Type 64 in an Infant: A Case Report and Hotspot Variant Analysis by Qian Liu, Feifei Li, Qin Ruan, Nana Wang, Zhengjun Fan

“…Results The patient presented with early‐onset epilepsy, developmental delay, and brain structural abnormalities. Genetic analysis revealed a de novo variant in RHOBTB2, c.1532G>A, p.…”
Get full text

High-quality DNA extraction for Desmodium gangeticum: A medicinal shrub of Shivalik Himalayas by Shiwani Singh, Maneesh S. Bhandari, Neeraj Dwivedi

“…Also, the isolation of DNA in purified form has its significance in facilitating precise genetic analysis such as sequencing, restriction digestion and polymerase chain reaction (PCR)-based trials. …”
Get full text

Rapid and accurate multi-phenotype imputation for millions of individuals by Lin-Lin Gu, Hong-Shan Wu, Tian-Yi Liu, Yong-Jie Zhang, Jing-Cheng He, Xiao-Lei Liu, Zhi-Yong Wang, Guo-Bo Chen, Dan Jiang, Ming Fang

“…Abstract Deep phenotyping can enhance the power of genetic analysis, including genome-wide association studies (GWAS), but the occurrence of missing phenotypes compromises the potential of such resources. …”
Get full text

Transient Neonatal Diabetes Mellitus with the Rare Association of Nonsuppurative Sialadenitis and Genetic Defects in 6q24 by Manal Mustafa, Nitin Ramdas, Mahmoud Elhalik, Arif Faquih

“…Blood tests revealed low serum insulin and C-peptide levels. Genetic analysis revealed multiple loci hypomethylation of the PLAGL1/HYMAI-DMR in the TNDM region in chromosome 6q24 and two pathogenic heterozygous variants in the ZFP57 gene. …”
Get full text

Diet-wide analyses for risk of colorectal cancer: prospective study of 12,251 incident cases among 542,778 women in the UK by Keren Papier, Kathryn E. Bradbury, Angela Balkwill, Isobel Barnes, Karl Smith-Byrne, Marc J. Gunter, Sonja I. Berndt, Loic Le Marchand, Anna H. Wu, Ulrike Peters, Valerie Beral, Timothy J. Key, Gillian K. Reeves

“…We examined associations of 97 dietary factors with colorectal cancer risk in 542,778 Million Women Study participants (12,251 incident cases over 16.6 years), and conducted a targeted genetic analysis in the ColoRectal Transdisciplinary Study, Colon Cancer Family Registry, and Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO). …”
Get full text

Genetic variations suggests that Takifugu rubripes, T. chinensis, and T. pseudommus are the same species with a shared gene pool by Ji Young Lee, Kun Hee Kim, Hyuk Je Lee, Sun-Goo Hwang, Tae Sun Kang

“…These variations were screened using ENSEMBL annotation and gene ontology analysis, and their potential association with morphological differences, such as dorsal spot patterns, was evaluated using reference Takifugu specimens.Results and discussionPopulation genetic analysis of T. rubripes, T. pseudommus, and T. chinensis using the CoI and CytB genes, combined with the 15 SSR loci, revealed clustering into a single genetic group characterized by remarkably low genetic diversity (four haplotypes, with diversity values ranging from 0.0000 to 0.00065) and minimal pairwise differentiation (microsatellite-based FST values ranging from -0.0021 to 0.0075). …”
Get full text

Genetic Analyses on Transgender Individuals: Impact on Physician Attitudes and Surgical Decision‐Making by Duygu Onur Cura, Ayfer Ülgenalp, Tufan Çankaya

“…Conclusion Although genetic analysis of TGD individuals is predicted to have a positive effect on physicians' attitudes toward them and on the GCS decision‐making process, it should be emphasized that the benefits for TGD individuals must outweigh the potential harm. …”
Get full text

Plant diversity and transcriptional variability assessed by retrotransposon-based molecular markers by R. N. Kalendar, K. S. Aizharkyn, O. N. Khapilina, A. A. Amenov, D. S. Tagimanova

“…The utility of LTR-retrotransposon-based markers, not only for genetic analysis and map construction, in addition also for the isolation and characterization of LTR retrotransposons, such as the long terminal repeats or the internal genes they contain. …”
Get full text

Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11β-Hydroxylase Deficiency by Katja Dumic, Tony Yuen, Zorana Grubic, Vesna Kusec, Ingeborg Barisic, Maria I. New

“…In order to elucidate the molecular basis for 11β-OHD in the Croatian/Slavic population, it is imperative to perform CYP11B1 genetic analysis in more patients from this region, since so far only four patients from three unrelated Croatian families have been analyzed.…”
Get full text

CLOVES Syndrome: A Review of Clinical, Genetic, and Therapeutic Aspects by Julianna Podolec, Silvia Ciraolo, Joanna Wojda, Adam Sobiński, Zuzanna Kościuszko, Katarzyna Kurza, Agnieszka Kulczycka-Rowicka, Matylda Czerwonka, Katarzyna Lesiczka-Fedoryj, Anna Walczak

“…The primary materials used in the research include: clinical case reports and studies, imaging studies, genetic analysis, therapeutic interventions, epidemiological data, literature review and data analysis. …”
Get full text

A girl with intragenic variants in MARS2 and a chondrodysplasia phenotype by Hiroyuki Iijima, Yuko Tsujioka, Yoshiyuki Tsutsumi, Gen Nishimura, Yasushi Okazaki, Kei Murayama, Mitsuru Kubota, Akira Ohtake

“…At age 33 months, she showed hyperlactatemia, and genetic analysis showed compound heterozygous novel variants (NM_138395.4: c.[277G > A]; [409C > T]: p.…”
Get full text

Oral manifestations of Nance Horan syndrome: A systematic review of case reports by Ankita Mathur, Sapna Negi, Snehasish Tripathy, Shalini Aggarwal, Felix Amekpor, Vini Mehta

“…Genetic studies or studies focussing on the genetic analysis of the case were excluded. Descriptive statistics were used to calculate simple frequency, percentages, and proportions to identify trends and commonalities in presenting symptoms and oral assessment findings. …”
Get full text

Genetic Determinants and Biofilm Properties Useful in Estimation of UTI Pathogenicity of the <i>Escherichia coli</i> Strains Isolated from Free-Living Birds by Bartosz Rybak, Tomasz Jarzembowski, Agnieszka Daca, Beata Krawczyk, Lidia Piechowicz

“…<b>Methods</b>: In this study, we assessed the virulence potential of environmental strains isolated from wild waterfowl using genetic analysis (Clermont phylogroup classification) and phenotypic methods, including analysis of the human monocyte response to biofilm formation. …”
Get full text

Evaluation of the Frequency of HLA-DQ2/DQ8 Genes Among Patients with Celiac Disease and Those on a Gluten-Free Diet by Marek K. Kowalski, Danuta Domżał-Magrowska, Ewa Małecka-Wojciesko

“…All subjects underwent a genetic analysis assessing the presence of histocompatibility antigens HLA-DQ2.2, -DQ2.5, and -DQ8, along with the assessment of alleles encoding the α and β subunits of the antigens, according to European Society of Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) guidelines from 2020, using the EUROarray technique at EUROIMMUNE^®. …”
Get full text

Morphological and phylogenetic features of the Crimean population of <i>Juniperus deltoids</i> R.P. Adams by A. O. Lantushenko, O. O. Korenkova, A. A. Syrovets, Ya. V. Meger, P. A. Korenkov, O. M. Shevchuk

“…Nuclear (ITS internal transcribed spacer) and chloroplast (petN-psbM, trnS-trnG) non-coding regions of the genome were used for genetic analysis. Studies have shown that the nuclear regions of genes have greater variability than chloroplast regions. …”
Get full text

Hook, line, and social media: crowd-sourced images reveal size and species patterns of ocean sunfishes (Tetraodontiformes, Molidae) from California to Alaska by Tor Mowatt-Larssen, Tierney M. Thys, Jackie Hildering, Eric J. Caldera, Ellen E. Biesack, Jan R. McDowell, Marianne Nyegaard, Marianne Nyegaard

“…The species identity of six M. tecta specimens from California and Alaska were verified with genetic analysis. Finally, two Mola alexandrini confirmed in the southern portion of the CCS represent the first records of this species in the Northeast Pacific Ocean.…”
Get full text

RESISTANCE TO THE BLAST AGENT AND THE MORPHOBIOLOGICALFEATURES OF GENOTYPES IN THE Oryza sativa L. COLLECTION FROM VARIOUS ECOLOGICAL AND GEOGRAPHICAL GROUPS IN CONDITIONS OF КUBAN... by T. L. Korotenko, O. A. Bragina, I. I. Suprun, Zh. M. Mukhina, Yu. V. Epifanovich, A. A. Petrukhnenko, T. А. Khorina

“…As a result of the evaluation of plant resistance to the Krasnodar population of the pathogen, the effective genes for resistance to the pathogen for breeding programs of the south of Russia and the molecular genetic analysis of the rice collection variety were determined: Pi-1, Pi-z, Pi-ta, Pi-z5, Pi-9, Pi-5(t), Pi-t, Pi-19.…”
Get full text