Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single‐Gene BDH1... by A. A. Kashevarova, M. E. Lopatkina, O. Yu. Vasilyeva, D. A. Fedotov, A. D. Lobanov, E. A. Fonova, I. Z. Zhalsanova, A. A. Zarubin, O. A. Salyukova, E. O. Belyaeva, V. V. Petrova, E. G. Ravzhaeva, A. A. Agafonova, A. D. Cheremnykh, N. B. Torkhova, S. L. Vovk, I. N. Lebedev

“…ABSTRACT Background Chromosome 3q29 duplication syndrome is a rare chromosomal disorder with a frequency of 1:5000 in patients with a neurodevelopmental phenotype. …”
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Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report by Mingyue Zhuang, Mingyue Zhuang, Yonglong Xu, Shiyi Zhong, Ziyuan Tian, Qingwu Liu, Dingquan Yang

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Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay by Melanie P. Napier, Erin Ryan, Adi Reich, Joshua A. Suhl, Diane Masser-Frye, Marilyn Jones, Celese Beaudreau, Nathaniel Robin, Dana Goodloe, Leandra Folk, Michelle M. Morrow, Deanna Alexis Carere

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TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report by Ge Yu, Guijie Xin, Xu Liu, Wanyu Li, Chen Shao, Runping Gao

“…Abstract Background Dyskeratosis congenita is a rare genetic disease due to telomere biology disorder and characterized by heterogeneous clinical manifestations and severe complications. …”
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Association Between GABRG2 and Self-Rating of the Effects of Alcohol in a French Young Adult Sample by Moe JS, Bramness JG, Bolstad I, Mørland JG, Gorwood P, Ramoz N

“…We further found an association between the minor allele in rs211014 (GABRG2) and higher SRE-scores, linked to dizziness and motor incoordination. Genetic variation in GABRG2 has previously been associated with processes involving motor coordination (alcohol withdrawal, febrile- and epileptic seizures).Conclusion: The results from our study suggest that genetic variation in GABRG2 may influence alcohol sensitivity, which could inform strategies for assessing risk for harmful alcohol use and AUD.Keywords: alcohol use, GABRG2, self-rating of the effects of alcohol, genetic, AUD, AUDIT…”
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The intestinal microbiome as a separate organ by Yu. O. Shulpekova

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EBV-Negative Monomorphic B-Cell Posttransplant Lymphoproliferative Disorder with Marked Morphologic Pleomorphism and Pathogenic Mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53 by Agata M. Bogusz

“…Posttransplant lymphoproliferative disorders (PTLDs) are a diverse group of lymphoid or plasmacytic proliferations frequently driven by Epstein-Barr virus (EBV). …”
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Migraine and restless legs syndrome – is there an association? by D. Bučaitė, J. Normantas, G. Žemgulytė

“…Moreover, comorbidity of these disorders determines even more difficult condition of the patients. …”
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In vitro micropropagation protocols for two endangered Dianthus species - via in vitro culture for conservation and recultivation purposes by Dóra Farkas, Judit Csabai, Angéla Kolesnyk, Pál Szarvas, Judit Dobránszki

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46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis by Giampaolo Papi, Rosa Maria Paragliola, Paola Concolino, Carlo Di Donato, Alfredo Pontecorvi, Salvatore Maria Corsello

“…Laboratory, imaging, and genetic features are herein reported and discussed.…”
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Case Report: Rare cardiovascular characteristics of tuberous sclerosis complex with novel TSC2 variant by Zhiqin Du, Xiao Ma, Xiao Ma, Xiao Ma, Jianhua Li, Fang Yang, Yangfan Guo, Yangfan Guo

“…BackgroundTuberous sclerosis complex (TSC) is a multisystem genetic disorder primarily characterized by the development of benign tumors in multiple organs. …”
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A new atypical splice mutation in PKD2 leading to autosomal dominant polycystic kidney disease in a Chinese family by Junlin Zhang, Yiting Wang, Yingwang Zhao, Fang Liu

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Prenatal Diagnosis of Zellweger Syndrome: Case Report by Bilgin Kütükcü, Meral Topçu, Sinan Beksaç, Ronald J. Wanders

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Bovine nebovirus infection (review) by V. A. Mischenko, A. V. Mischenko, T. B. Nikeshina, Yu. V. Brovko, A. I. Kushlubaeva

“…One of the most significant and difficult tasks is to generate and rear healthy young cattle. Digestive disorders clinically manifested by diarrhea resulting in apparent dehydration, toxemia, enophthalmos, membrane pathology, immunodeficiency and metabolic disorders are prevalent among neonatal calf diseases in early postnatal period. …”
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Association of Myasthenia Gravis With Autoimmune Thyroid Disease: A Bidirectional Mendelian Randomization Study by Yao Wang, Ke Wang, Jing Lu, Peng Xu, Dongmei Zhang, Xinzhi Chen, Jian Wang

“…Consequently, proactive treatment strategies targeting either MG or autoimmune thyroid disorders may help mitigate the risk of comorbidities in affected patients.…”
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Primary Amenorrhea in a 15‐Year‐Old Girl Leading to the Diagnosis of Bardet‐Biedl Syndrome: A Case Report by Azka Noor, Digbijay Kunwar, Zahra Tasneem, Saad Ameer Ishaq

“…ABSTRACT This case report highlights the clinical complexity of Bardet‐Biedl syndrome, a rare autosomal recessive disorder, emphasizing reproductive anomalies to aid in diagnosis and management. …”
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Assessing in-vitro models for microglial development and fetal programming: a critical review by Steven Schepanski, Steven Schepanski, Gonza B. Ngoumou, Gonza B. Ngoumou, Claudia Buss, Claudia Buss, Claudia Buss, Claudia Buss, Georg Seifert, Georg Seifert

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Narrative microstructure and macrostructure in adolescents with Down syndrome and Williams syndrome by Aitana Viejo, Maite Fernández-Urquiza, Eliseo Diez-Itza

“…Down syndrome (DS) and Williams syndrome (WS) are genetic neurodevelopmental disorders associated with intellectual disability, showing contrasting linguistic profiles with asymmetries in grammatical (DS weakness/WS strength) vs. pragmatic abilities (DS strength/WS weakness). …”
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Disruption of the CRF1 receptor eliminates morphine-induced sociability deficits and firing of oxytocinergic neurons in male mice by Alessandro Piccin, Anne-Emilie Allain, Jérôme M Baufreton, Sandrine S Bertrand, Angelo Contarino

“…Substance-induced social behavior deficits dramatically worsen the clinical outcome of substance use disorders; yet, the underlying mechanisms remain poorly understood. …”
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Haplotype tagging efficiency and tagSNP sets portability in worldwide populations in NAT2 gene by Audrey Sabbagh, Pierre Darlu, André Langaney, Estella S. Poloni

“…Genetic polymorphism in the NAT2 gene is responsible for pronounced interindividual differences in the acetylation activity of the N-acetyltransferase 2 (NAT2) enzyme, which plays a crucial role in the metabolism of many clinically useful drugs and exogenous chemicals. …”
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