Abnormal cytoskeletal remodeling but normal neuronal excitability in a mouse model of the recurrent developmental and epileptic encephalopathy-susceptibility KCNB1-p.R312H variant by Alessandro Bortolami, Elena Forzisi Kathera-Ibarra, Anastasia Balatsky, Mansi Dubey, Rusheel Amin, Srinidi Venkateswaran, Stefania Dutto, Ishan Seth, Adam Ashor, Angel Nwandiko, Ping-Yue Pan, David P. Crockett, Federico Sesti

“…Here, we investigate the function of neocortical IKCs formed by voltage-gated potassium (Kv) channels Kcnb1 and α5β5 integrin dimers in wild-type (WT) and homozygous knock-in (KI) Kcnb1 R312H(+/+) mouse model of DEE. …”
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Elexacaftor/tezacaftor/ivacaftor and inflammation in children and adolescents with cystic fibrosis: a retrospective dual-center cohort study by Angela Pepe, Cristina Fevola, Daniela Dolce, Silvia Campana, Novella Ravenni, Giovanni Taccetti, Donatello Salvatore, Vito Terlizzi

“…Results: Sixty-six patients (30 males, median age: 12 years, F508del homozygous: 23) were included. Mean IgG levels (SD) significantly decreased ( p  = 0.001) from 1168.20 mg/dl (344.41) at baseline to 1093.05 mg/dl (258.73; 12 months) and 1092.87 mg/dl (232.42; 24 months). …”
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A variant in GRN of Spanish origin presenting with heterogeneous phenotypes by M. Menéndez-González, A. García-Martínez, I. Fernández-Vega, A. Pitiot, V. Álvarez

“…Retinal degeneration has been found in homozygous carriers only. Ex vivo splicing assays confirmed that the mutation c.1414-1G>T affects the splicing of the exon, causing a loss of 20 amino acids in exon 11. …”
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Exploiting somatic oncogenic driver alterations in a patient with Li-Fraumeni syndrome– paving the path towards precision medicine: a case report by Carolin Seeling, Sonja Dahlum, Ralf Marienfeld, Vera Jan, Brigitte Rack, Uwe Gerstenmaier, Ambros J. Beer, Regine Mayer-Steinacker, Wolfgang Thaiss, Thomas F. E. Barth, Thomas Seufferlein, Nadine T. Gaisa, Stephan Stilgenbauer, Wolfgang Janni, Reiner Siebert, Hartmut Döhner, Verena I. Gaidzik

“…Subsequent molecular analysis of the osteosarcoma tissue revealed homozygous loss of the CDKN2A gene locus, warranting treatment with CDK4/6 inhibitor palbociclib. …”
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Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing by Ahmed Bouhouche, Houyam Tibar, Yamna Kriouale, Mohammed Jiddane, Imane Smaili, Naima Bouslam, Ali Benomar, Mohamed Yahyaoui, Elmostafa El Fahime

“…The already known pathogenic missense mutation c.601G>A in GLB1 (p.R201C) was found at homozygous state in the proband V.1 and at heterozygous state in his father IV.1. …”
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Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever by Rudy Feghali, José-Noel Ibrahim, Nabiha Salem, Romy Moussallem, Ghina Hijazi, Charbel Attieh, Tony Yammine, Alain Chebly, Alain Chebly

“…The genotype-phenotype correlation analysis revealed a more severe phenotype in patients carrying the M694V or V726A mutations compared to those with the homozygous E148Q genotype. This study, the largest in Lebanon, highlights the high prevalence of MEFV variants, particularly M694V and V726A, in FMF patients. …”
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Rapid method for identification of transgenic fish zygosity by . Alimuddin, G. Yoshizaki, O. Carman

“…The results demonstrated a clear-cut identification of all transgenic fish (n=20) classified as a homozygous or heterozygous.  Mating of those fish with wild-type had revealed transgene transmission to the offspring following expected Mendelian laws. …”
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The associations between single nucleotide polymorphisms and diabetic retinopathy risk: an umbrella review by Shaofen Huang, Yonghui Feng, Ying Sun, Jiazi Liu, Pu Wang, Jingrong Yu, Xin Su, Shasha Han, Shiqi Huang, Haokun Huang, Shiyun Chen, Ying Xu, Fangfang Zeng

“…Carriers of specific genotypes and alleles of the transcription Factor 7-like 2 C/T (TCF7L2 C/T) polymorphism (rs7903146, p < 0.001) might be more susceptible to the occurrence of DR in the homozygous and recessive models, and these associations were supported by “convincing” evidence. …”
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The AβA2V paradigm: From molecular insights to therapeutic strategies in Alzheimer’s disease and primary tauopathies by Luisa Diomede, Andrea Conz, Michele Mosconi, Tatiana Stoilova, Matteo Paloni, Matteo Salvalaglio, Alfredo Cagnotto, Laura Colombo, Marcella Catania, Giuseppe Di Fede, Fabrizio Tagliavini, Mario Salmona

“…Considering the multifactorial etiology of the disease, mainly characterized by the accumulation of amyloid β plaques and neurofibrillary tangles of tau protein, we discuss the A673V mutation in the gene coding for the amyloid precursor protein, which is associated with the familial form of Alzheimer’s disease in a homozygous state. The mutation offers new insights into the molecular mechanisms of the disease, particularly regarding the contrasting roles of the A2V and A2T mutations in amyloid β peptide aggregation and toxicity. …”
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Genotype-Phenotype Correlation of G6PD Mutations among Central Thai Children with G6PD Deficiency by Boonchai Boonyawat, Tim Phetthong, Nithipun Suksumek, Chanchai Traivaree

“…Two female patients (6.9%) were either homozygous or compound heterozygous for the mutations and had G6PD level in the affected male range (35 and 10 IU/ml.RBC). …”
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Leucocytosis and Asymptomatic Urinary Tract Infections in Sickle Cell Patients at a Tertiary Hospital in Zambia by Taonga Musonda, Mildred Zulu, Mulemba Samutela, Annie Kalonda, Hamakwa Mantina, Pauline Okuku, Musalula Sinkala, Panji Nkhoma

“…Sickle cell anaemia (SCA) is an inherited disease resulting from mutations in the β-globin chain of adult haemoglobin that results in the formation of homozygous sickle haemoglobin. It is associated with several complications including an altered blood picture and damage in multiple organs, including the kidneys. …”
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Additional Evidence for DDB2 T338M as a Genetic Risk Factor for Ocular Squamous Cell Carcinoma in Horses by Moriel H. Singer-Berk, Kelly E. Knickelbein, Zachary T. Lounsberry, Margo Crausaz, Savanna Vig, Nikhil Joshi, Monica Britton, Matthew L. Settles, Christopher M. Reilly, Ellison Bentley, Catherine Nunnery, Ann Dwyer, Mary E. Lassaline, Rebecca R. Bellone

“…The risk allele was not identified in Arabians, and no Percherons were homozygous for the risk allele. High-throughput sequencing data from six Haflingers were analyzed to ascertain if any other variant from the previously associated 483 kb locus on ECA12 was more concordant with the SCC phenotype than the DDB2 variant. …”
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Primary Terminal Haemochromatosis in a 50 Year-Old Patient by M. I. Gonik, M. S. Zharkova, O. Yu. Kiseleva, E. V. Berezina, Sh. A. Ondos, Yu. V. Lerner, E. A. Kogan, V. T. Ivashkin

“…Clinical diagnosis: Primary disease: haemochromatosis (homozygous variant HFE 845G > A (A/A)): liver cirrhosis, Child-Pugh class C. …”
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Consequences of insecticide overuse in Hungary: assessment of pyrethroid resistance in Culex pipiens and Aedes albopictus mosquitoes by Rebeka Csiba, Zsaklin Varga, Dorina Pásztor, Bianka Süle, Vera Ihuoma Ogoke Mxinwa, Zoltán Soltész, Brigitta Zana, Krisztián Bányai, Gábor Kemenesi, Kornélia Kurucz

“…In contrast, for Ae. albopictus, the analyzed individuals were found to carry only the susceptible alleles, indicating a homozygous susceptible genotype across the investigated populations on the basis of V1016G and F1534C genes. …”
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Clinical follow-up of 2 families with glomerulopathy caused by COQ8B gene variants and literature review by Lei Zhang, Gentzon Hall, Peitong Han, Chunzhen Li, Jieyuan Cui

“…Based on the results of genetic testing which identified a homozygous variant of COQ8B, the other two affected siblings with mild proteinuria and normal renal function were treated with CoQ10 oral supplementation at an early stage. …”
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Population Genomics Reveals Elevated Inbreeding and Accumulation of Deleterious Mutations in White Raccoon Dogs by Yinping Tian, Yu Lin, Yue Ma, Jiayi Li, Sunil Kumar Sahu, Jiale Fan, Chen Lin, Zhiang Li, Minhui Shi, Fengping He, Lianduo Bai, Yuan Fu, Zhangwen Deng, Huabing Guo, Haimeng Li, Qiye Li, Yanchun Xu, Tianming Lan, Zhijun Hou, Yanling Xia, Shuhui Yang

“…With the finding of a significantly higher dosage of homozygous missense mutations in the white raccoon dog genome, we detected a greater fitness cost in white raccoon dogs. …”
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A nonactivating ITGB3 mutation in the β3 cytoplasmic region causes macrothrombocytopenia with an impaired αIIbβ3/RhoA pathway by Keiichi Nakata, Keigo Akuta, Takaya Endo, Midori Koike, Daisuke Motooka, Daisuke Okuzaki, Hisashi Kato, Yoshiaki Tomiyama, Naoki Hosen, Hirokazu Kashiwagi

“…Macrothrombocytopenia was decreased to 76% and 40% of platelet counts in heterozygous (Hetero) and homozygous (Homo) KI mice, respectively, when compared with the wild-type mice. …”
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Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing by Jeong-Min Kim, Hye-Won Cho, Dong Mun Shin, Oc-Hee Kim, Jihyun Kim, Hyeji Lee, Gang-Hee Lee, Joon-Yong An, Misun Yang, Heui Seung Jo, Ja-Hyun Jang, Yun Sil Chang, Hyun-Young Park, Mi-Hyun Park

“…In addition to the above findings, eleven diagnostic variants initially discovered in a targeted-gene analysis from a previous study were also identified as diagnostic variants and the in-house pipeline demonstrated a significant advantage in accurately and efficiently identifying de novo variants (DNVs), compound heterozygous (CH), and homozygous variants. Conclusions Taken together, the in-house pipeline established in this study provides a highly valuable diagnostic tool for the identification of potential candidate variants in patients with CA. …”
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Overexpression of multiple cytochrome P450 genes with and without knockdown resistance mutations confers high resistance to deltamethrin in Culex quinquefasciatus by Saowanee Chamnanya, Benyapa Kiddela, Jassada Saingamsook, Woottichai Nachaiwieng, Nongkran Lumjuan, Pradya Somboon, Jintana Yanola

“…Heterozygous genotype for the D-Cu( +)/Cu(–) of CYP9M10 gene was detected in Cq_NiH and Cq_NiH-R strains but other strains were mostly homozygous for the Cu(–)/Cu(–). Conclusions Overexpression of multiple cytochrome P450 genes alone has a relatively minor impact on resistance. …”
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Genetic and biochemical analysis of severe hypertriglyceridemia complicated with acute pancreatitis or with low post-heparin lipoprotein lipase mass by Takashi Suzuki, Makoto Kurano, Akari Isono, Takuya Uchino, Yohei Sayama, Honami Tomomitsu, Daiki Mayumi, Ruriko Shibayama, Toru Sekiguchi, Naoki Edo, Kiyoko Uno-Eder, Kenji Uno, Koji Morita, Toshio Ishikawa, Kazuhisa Tsukamoto

“…Three patients were homozygous for APOA5 rs2075291, and one was heterozygous. …”
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