Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria by Hewa Warawitage Dilanthi, Kandana Liyanage Subhashinie Jayasena, Nambage Dona Priyani Dhammika, Neluwa Liyanage Ruwan Indika, Matara Mahavidanage Nishani De Silva, Imalke Kankananarachchi, Pushpa Malkanthi Gardiye Punchihewa, Dharma Irugalbandara, Sabine Schroeder, Kosala Karunaratne, Eresha Jasinge

“…ABSTRACT Homocystinuria due to cystathionine beta‐synthase (CBS) deficiency is a rare metabolic disorder inherited as an autosomal recessive trait. Spectrum of genetic variants in CBS gene and their correlation with the phenotypes of homocystinuria in Sri Lankan patients have not been reported to date. …”
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Downregulation of MerTK in circulating T cells of patients with non-proliferative diabetic retinopathy by Shimiao Bu, Shimiao Bu, Jiang-Yue Ling, Jiang-Yue Ling, Xiaojun Wu, Xiaojun Wu, Liting Zhang, Liting Zhang, Xiangyu Shi, Lang Huang, Zheng Zhao, Ying Yang, Zongqin Xiang, Yong U. Liu, Yong U. Liu, Yufeng Liu, Yuehong Zhang, Yuehong Zhang

“…Western blot and flow cytometry were also employed to evaluate the protein expression of specific genes.ResultsIn patients with NPDR compared to those with DM alone, MerTK—a gene implicated in inherited retinal dystrophies due to its mutations—was notably downregulated in PBMCs. …”
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Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices by Yufeng Huang, Wenyue Deng, Hui Huang, Xiankai Zhang, Xiaohong Chen, Jian Ye, Sukun Luo, Ting Yu, Hui Yao, Hao Du, Xuelian He

“…Sanger sequencing and karyotyping analysis were used to validate the variants identified in the boy and his parents.ResultsThis boy diagnosed with MPSVI based on clinical phenotypes and laboratory biochemical assays, and WES identified only a maternally inherited missense variant, c.908G>T (p.Gly303Val), in the ARSB gene. …”
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Reconstructing the genetic structure of the Kazakh from clan distribution data by M. K. Zhabagin, О. Е. Balanovsky, Zh. M. Sabitov, A. Z. Temirgaliyev, A. T. Agdzhoyan, S. M. Koshel, Е. М. Ramankulov, E. V. Balanovska

“…Applying quasigenetic markers - non-biological traits which are nevertheless inherited in generations - is one of the research fields within human population genetics. …”
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Plastome data provides new insights into population differentiation and evolution of Ginkgo in the Sichuan Basin of China by Liyun Nie, Fangling Liu, Meixia Wang, Zhuying Jiang, Jiali Kong, Luke R. Tembrock, Shenglong Kan, Penghao Wang, Jie Wang, Zhiqiang Wu, Xiaoli Liu

“…While nuclear genomic studies have revealed population structure across China, the evolutionary patterns reflected in maternally inherited plastomes remain unclear, particularly in the Sichuan Basin - a potential glacial refugium that may have played a crucial role in Ginkgo’s persistence. …”
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The Effect of Repetitive Transcranial Magnetic Stimulation on Motor Symptoms in Hereditary Spastic Paraplegia by J. Antczak, J. Pera, M. Dąbroś, W. Koźmiński, M. Czyżycki, K. Wężyk, M. Dwojak, M. Banach, A. Slowik

“…Hereditary spastic paraplegia (HSP) is a heterogeneous group of inherited disorders affecting predominantly the motor cortex and pyramidal tract, which results in slowly progressing gait disorders, as well as spasticity and weakness of lower extremities. …”
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Rapid diversification of St-genome-sharing species in wheat grasses (Triticeae: Poaceae) accompanied by diversifying selection of chloroplast genes by Li-Na Sha, Ning Chen, Shi-Yong Chen, Yue Zhang, Yi-Ran Cheng, Dan-Dan Wu, Yi Wang, Hou-Yang Kang, Hai-Qin Zhang, Xiao Ma, Yong-Hong Zhou, Xing Fan

“…In combination with plastome data, further investigations using other genomes, such as the nuclear genome, are urgently needed to enhance our understanding of the evolutionary history of the St-genome-sharing taxa, especially to determine whether adaptive changes in the nuclear genome are accelerated as well because plastome represents the maternal inheritation in angiosperms.…”
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Identifying Multiomic Signatures of X‐Linked Retinoschisis‐Derived Retinal Organoids and Mice Harboring Patient‐Specific Mutation Using Spatiotemporal Single‐Cell Transcriptomics... by Yueh Chien, You‐Ren Wu, Chih‐Ying Chen, Yi‐Ping Yang, Lo‐Jei Ching, Bo‐Xuan Wang, Wei‐Chao Chang, I‐Hsun Chiang, Pong Su, Shih‐Yu Chen, Wen‐Chang Lin, I‐Chieh Wang, Tai‐Chi Lin, Shih‐Jen Chen, Shih‐Hwa Chiou

“…Abstract X‐linked retinoschisis (XLRS) is an inherited retinal disorder with severe retinoschisis and visual impairments. …”
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Familial Hypercholesterolemia: Genetics, Symptoms, Diagnosis and Treatment - A Literature Overview by Maciej Rutkiewicz, Sabina Przygodzka, Katarzyna Gadżała, Karolina Garbino, Katarzyna Brudniak, Antoni Szuścik, Magdalena Czyczerska

“… Familial hypercholesterolemia is a genetic disorder of lipid management, especially LDL-C. It's inherited autosomal dominant in most cases. The illness is characterized by high, low-density lipoprotein cholesterol (LDL-C) levels. …”
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Hokuriku-plus familial hypercholesterolaemia registry study: rationale and study design by Hiroshi Matsumoto, Akihiro Nomura, Hayato Tada, Hirofumi Okada, Atsushi Nohara, Masa-aki Kawashiri, Koji Maeno, Manabu Fujimoto, Shohei Yoshida, Masaya Shimojima, Toyonobu Tsuda, Mika Mori, Shin-ichiro Takashima, Takeshi Kato, Soichiro Usui, Kenji Sakata, Kenshi Hayashi, Noboru Fujino, Akihiro Inazu, Shizuko Takahara, Yasuhito Imai, Takao Matsubara, Kenji Miwa, Masanobu Namura, Hidenobu Terai, Taiji Yoshida, Tsutomu Araki, Masahiro Minamoto, Toru Aburao, Yuji Ito, Chiaki Nakanishi, Suguru Kawasaki, Yasuhiro Todo, Junji Koizumi, Yoshihito Kita, Hiroaki Shintaku, Akihiko Hodatsu, Hidekazu Ino, Toshinori Higashikata, Mutsuko Takata, Katsushi Misawa, Masato Yamaguchi, Yoshihiro Noji, Kazuo Osato, Tomohito Mabuchi, Taro Ichise, Bunji Kaku, Shoji Katsuda, Katsuharu Uchiyama, Kensuke Fujioka, Takuya Nakahashi, Tsuyoshi Nozue, Ichiro Michishita, Kazuo Usuda, Kanichi Otowa, Kazuyasu Okeie, Satoshi Hirota, Isao Aburadani, Keisuke Kurokawa, Osamu Takatori, Shunichiro Hondo, Hiroyuki Oda, Shigeo Takata, Hisayoshi Murai, Masaki Kinoshita, Hideo Nagai, Yoshiteru Sekiguchi, Satoru Sakagami, Wataru Omi, Chikara Fujita, Tatsuo Katsuki, Hiroshi Ootsuji, Atsushi Igarashi, Manabu Nakano, Seiichiro Okura, Yasuhito Mitamura, Naoki Sugimoto, Masakazu Yamamoto, Hironobu Akao, Kouji Kajinami, Masayuki Takamura

“…Introduction Familial hypercholesterolaemia (FH) is an autosomal-dominant inherited genetic disease. It carries an extremely high cardiovascular risk associated with significantly elevated low-density lipoprotein (LDL) cholesterol. …”
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From bench to bedside: Developing CRISPR/Cas-based therapy for ocular diseases by Qing Zhao, Linxin Wei, Youxin Chen

“…To date, active trials include treatments for primary open angle glaucoma with MYOC mutations, refractory herpetic viral keratitis, CEP290-associated inherited retinal degenerations, neovascular age-related macular degeneration, and retinitis pigmentosa with RHO mutations. …”
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Preimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths by Lingyun Zhang, Lei Feng, Hao Shi, Wenbin Niu, Yanchi Wang, Bei Bu, Yidong Liu, Xiao Bao, Wenyan Song, Haixia Jin, Yingpu Sun

“…Abstract Purpose Severe combined immunodeficiency (SCID) is a set of rare monogenic inherited diseases that together represent the most severe form of the primary immunodeficiency disease phenotype. …”
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An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation by Xiaoyan Tan, Yi Yang, Xia Wu, Jing Zhu, Teng Wang, Huihui Jiang, Shu Chen, Shifeng Lou

“…ObjectivesHemophilia A (HA) is an X-linked recessive inherited bleeding disorder that typically affects men. …”
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Cerebellar lipid dysregulation in SCA3: A comparative study in patients and mice by Alexandra F. Putka, Varshasnata Mohanty, Stephanie M. Cologna, Hayley S. McLoughlin

“…Spinocerebellar ataxia type 3 (SCA3) is the most common dominantly inherited ataxia and belongs to the family of nine diseases caused by a polyglutamine expansion in the disease-causing protein. …”
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Insights on the Permian tuff beds from the Saint-Affrique Basin (Massif Central, France): an integrated geochemical and geochronological study by Poujol, Marc, Mercuzot, Mathilde, Lopez, Michel, Bourquin, Sylvie, Bruguier, Olivier, Hallot, Erwan, Beccaletto, Laurent

“…The elemental geochemistry, the presence of inherited detrital zircons and the Hf signatures of the volcanic ones indicate the involvement of an old (Proterozoic and older) basement in the magma genesis; this crustal contribution becomes more prominent towards the top of the sedimentary succession.…”
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A Tale of Two Conditions: Pediatric Brugada Syndrome Unveiled—Navigating the Challenges of Coexisting Arrhythmia and Fever‐Induced ECG Pattern by Hei‐To Leung, Sit‐Yee Kwok, Fong‐Ying Shih, Kin‐Shing Lun, Tak‐Cheung Yung, Sabrina Tsao

“…ABSTRACT Background Brugada syndrome (BrS) is an inherited channelopathy characterized by right precordial ST‐segment elevation. …”
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Fertility differences between two wild-type <i>Drosophila melanogaster</i> lines correlate with differences in the expression of the <i>Jheh</i> gene, which codes for an enzyme deg... by O. V. Andreenkova, N. V. Adonyeva, V. M. Efimov, N.  E. Gruntenko

“…Another factor that can affect the insect reproduction is an infection with the maternally inherited symbiotic α-proteobacterium Wolbachia. The present study is devoted to the analysis of the expression of two juvenile hormone metabolism genes encoding enzymes of its synthesis and degradation, juvenile hormone acid O-methyltransferase ( jhamt) and juvenile hormone epoxide hydrase (Jheh1), respectively, in four wild-type D. melanogaster lines, two of them being infected with Wolbachia. …”
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Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus by Carlotta Spagnoli, Roberta Battini, Filippo Manti, Duccio Maria Cordelli, Andrea Pession, Melissa Bellini, Andrea Bordugo, Gaetano Cantalupo, Antonella Riva, Pasquale Striano, Marco Spada, Francesco Porta, Carlo Fusco

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DISCUSSIONS REGARDING A POSSIBLE GOVERNMENT GUARDIANSHIP CONTROL OVER ADMINISTRATIVE ACTS by Constantin Claudiu ULARIU

“…Considering this prestigious DNA inherited by the Government, combined with the fundamental role played by this essential administrative authority in executing and organising the activities of all public institutions in Romania, it follows that it assumes a responsibility for coordination and administrative patronage over all state authorities, regardless of the level at which they operate, whether at the central or local level, and regardless of their intrinsic functionality. …”
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The formation problem of the Tatar class in the Kazan Khanate (specific historical and theoretical aspects) by Iskhakov D.M.

“…Research materials: the data of Russian chronicles, the Tatar source “Daftar-i Chingiz-name”, the works of Utemish-hadzhi, Abdulgaffar Kyrimi, Kadyr Ali-bek, materials of diplomatic correspondence of the 16th century, epigraphic materials, historical legends, and genealogical data were used in the work, associated with noble Tatars.Results and novelty of the study: The study showed that the Kazan Khanate did not inherit the former clan composition of the Tatar population of the time of the Bulgar vilayet, it was different, characteristic of the right wing of the Golden Horde and later the Greater Horde-Crimean polity. …”
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