Phenogenetics of cortical granule dynamics during zebrafish oocyte-to-embryo transition by Priscila García-Castro, Isabella Giambó-Falian, Ingrid Carvacho, Ricardo Fuentes

“…Mutations in these genes disrupt these processes, highlighting the maternal genetic control over CG properties. Zebrafish has emerged as a pivotal model for understanding the evolving genetic regulation and molecular mechanisms underlying CG biology, providing valuable insights into fertility and early embryonic development.…”
Get full text

Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation by Esteban Uribe-Bojanini, Sara Hernandez-Quiceno, Alicia María Cock-Rada

“…Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis–Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. …”
Get full text

Using RAD-seq to identify and differentiate the medicinal herb Scrophularia ningpoensis and its adulterants by Lei Guo, Xia Wang, Hong Li, Mengli Zhou, Liqin Liu, Ruihong Wang, Pan Li

“…Results In this study, RAD-seq technology was employed to sequence 27 individuals from the four species, yielding 55,250 high-quality SNP sites. Genetic differentiation analysis using these sites revealed significant genetic divergence between S. ningpoensis and the three adulterants. …”
Get full text

NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness by Penghui Chen, Longxia He, Xiuhong Pang, Xiaowen Wang, Tao Yang, Hao Wu

“…Nonsyndromic deafness is genetically heterogeneous but phenotypically similar among many cases. …”
Get full text

Rapid change in red cell blood group systems after the main Out of Africa of Homo sapiens by Stéphane Mazières, Silvana Condemi, Wassim El Nemer, Jacques Chiaroni

“…Herein we fully pictured the blood group genetic diversity of 22 Homo sapiens and 14 Neandertals from Eurasia living between 120,000 and 20,000 years before present (yBP). …”
Get full text

Exploring Mitochondrial Evolutionary Pathways: Insights into the Origin of the Endemic Ohrid Trout by Anila Hoda, Chiara Locci, Ilenia Azzena, Noemi Pascale, Ilaria Deplano, Roland Kristo, Arian Demiri, Fabio Scarpa, Marco Casu, Daria Sanna

“…However, the extent of their genetic differentiation remains unclear. This study aimed to investigate the genetic variability and population structure of <i>Salmo letnica</i> morphotypes using the mitochondrial Control Region as molecular marker. …”
Get full text

Development of animal models to study aggressive thyroid cancers by Shovan Dutta, Jeffrey A Knauf

“…However, as our understanding of the genetic alterations driving thyroid cancer has expanded, more sophisticated genetic engineering techniques have been employed to create models with thyroid-specific expression of these driver mutations. …”
Get full text

Diverse real-life outcomes after intensive risk-adapted therapy for 1034 AML patients from the CETLAM Group by Guadalupe Oñate, Ana Garrido, Montserrat Arnan, Helena Pomares, Ester Alonso, Mar Tormo, Marina Diaz-Beya, Susana Vives, Lurdes Zamora, Antonia Sampol, Rosa Coll, Olga Salamero, Marta Cervera, Antoni Garcia, Ferran Vall-Llovera, Sara Garcia-Avila, Joan Bargay, Xavier Ortin, Eva Iranzo, Francisca Guijarro, Marta Pratcorona, Josep F. Nomdedeu, Jordi Esteve, Jorge Sierra

“…Remission and survival outcomes varied among different genetic subsets. An especially adverse genetic group included complex, monosomal karyotype, TP53 alterations (deleted/mutated), and MECOMr. …”
Get full text

Developmental defects in ectodermal appendages caused by missense mutation in edaradd gene in the nfr mangrove killifish kryptolebias marmoratus by Hussein A. Saud, Paul A. O’Neill, Brian C. Ring, Tetsuhiro Kudoh

“…Abstract The mangrove killifish, Kryptolebias marmoratus, can reproduce with self-fertilisation, offering a unique and useful genetic tool for generation of genetic mutants and quick identification of mutated genes. …”
Get full text

Comparative genomics reveal a novel phylotaxonomic order in the genus Fusobacterium by Cristian Molteni, Diego Forni, Rachele Cagliani, Manuela Sironi

“…Abstract Fusobacteria have been associated to different diseases, including colorectal cancer (CRC), but knowledge of which taxonomic groups contribute to specific conditions is incomplete. We analyzed the genetic diversity and relationships within the Fusobacterium genus. …”
Get full text

The Association of Adipokines and Myokines in the Blood of Obese Children and Adolescents with Lipoprotein Lipase rs328 Gene Variants by Alexander V. Shestopalov, Vadim V. Davydov, Genrik T. Tumanyan, Elena D. Teplyakova, Tatiana P. Shkurat, Elena V. Mashkina, Mikhail A. Shkurat, Andrey M. Gaponov, Anastasia A. Sadova, Olga V. Borisenko, Sergey A. Roumiantsev

“…Obesity develops largely due to genetic factors, with the genetic polymorphism of lipid metabolism enzymes being of particular importance. …”
Get full text

New banded Leporinus (Characiformes: Anostomidae) from the Madeira River basin, Brazil, and redescription of L. bleheri, based on integrative taxonomy by Mariana Pascoal Boaretto, Willian Massaharu Ohara, Lenice Souza-Shibatta, José Luís Olivan Birindelli

“…DNA barcodes were used to investigate the genetic distance between samples and for species delimitation analyses. …”
Get full text

Unique Case Report of a Meningeal Sarcoma Arising during Ongoing Treatment for Progressing Intraparenchymal Glioma by Richard A. Peterson, Bhavani Kashyap, Pamala A. Pawloski, Anna C. Forsberg, Leah R. Hanson

“…Latency periods shorter than 1 year may indicate a genetic predisposition such as Li-Fraumeni syndrome. …”
Get full text

Blood cancer prediction model based on deep learning technique by Amr I. Shehta, Mona Nasr, Alaa El Din M. El Ghazali

“…Blood cancer is currently one of the deadliest diseases worldwide, resulting from a combination of genetic and non-genetic factors. It stands as a leading cause of cancer-related deaths in both developed and developing nations. …”
Get full text

Frequency of Y chromosome Microdeletions in Turkish Infertile Men: Single Center Experience by Aysel Kalaycı Yiğin, Mehmet Seven, Deniz Ağırbaşlı, Gizem Erdoğan Erdur

“…Objective: Infertility is defined as the failure to achieve a clinical pregnancy after twelve months of regular unprotected sexual intercourse. Both genetic and environmental factors affect infertility. …”
Get full text

Cryptic coral community composition across environmental gradients. by Gia N Cabacungan, Tharani N Waduwara Kankanamalage, Amilah F Azam, Madeleine R Collins, Abigail R Arratia, Alexandra N Gutting, Mikhail V Matz, Kristina L Black

“…Cryptic genetic variation is increasingly being identified in numerous coral species, with prior research indicating that different cryptic genetic lineages can exhibit varied responses to environmental changes. …”
Get full text

Noninvasive Monitoring of mRFP1- and mCherry-Labeled Oncolytic Adenoviruses in an Orthotopic Breast Cancer Model by Spectral Imaging by Anton V. Borovjagin, Lacey R. McNally, Minghui Wang, David T. Curiel, Mary J. MacDougall, Kurt R. Zinn

“…Genetic capsid labeling of conditionally replicative adenoviruses (CRAds) with fluorescent tags offers a potentially more accurate monitoring of those virotherapy agents in vivo. …”
Get full text

Genomic Variability among Field Isolates and Laboratory-Adapted Strains of Leptospira borgpetersenii Serovar Hardjo by Alejandro Llanes, Carlos Mario Restrepo, Pablo Riesgo-Ferreiro, Sreekumari Rajeev

“…In contrast, several differences regarding gene content and genetic variants were observed between the two subtypes. …”
Get full text

Phenotypic Diversity Assessment of Okra (Abelmoschus Esculentus (L.) Moench) Genotypes in Ethiopia Using Multivariate Analysis by Jemal Mohammed, Wassu Mohammed, Eleni Shiferaw

“…Thus, this study was conducted to assess the genetic diversity of okra genotypes in Ethiopia using agromorphological and biochemical markers. …”
Get full text

A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child, With Brief Literature Review of 44 Cases by Reema Iskafi MD, Bahaa AbuRahmeh MD, Roa’a Aljuneidi MD, Hidaya AlShweiki MD, Siraj Abdelnabi MD, Anas Abukhalaf MBBS, Bara’ Maraqa PBoS

“…We discussed the importance of providing genetic counseling to parents of children with this and other rare, autosomal recessive disorders to prevent new cases from appearing.…”
Get full text