Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa by You Na Kim, Yoon Jeon Kim, Chang Ahn Seol, Eul-Ju Seo, Joo Yong Lee, Young Hee Yoon

“…Most of the RP cases were associated with autosomal recessive variants (N = 64 (44.4%)), followed by autosomal dominant (N = 10 (6.9%)) and X-linked variants (N = 3 (2.1%)). …”
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Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation by Chang Guo, Sha-Sha Huang, Yong-Yi Yuan, Ying Zhou, Ning Wang, Dong-Yang Kang, Su-Yan Yang, Xin Zhang, Xue Gao, Pu Dai

“…In the Chinese population, the c.235delC mutation is the most common pathogenic mutation of GJB2 and is closely related to hereditary recessive hearing loss. Here, we investigated the hearing phenotypes of patients with hearing loss associated with the homozygous c.235delC mutation, paying special attention to asymmetric interaural hearing loss. …”
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Association of MTHFD1 G1958A (rs2236225) gene polymorphism with the risk of congenital heart disease: a systematic review and meta-analysis by Kang Yi, Shao-E He, Tao Guo, Zi-Qiang Wang, Xin Zhang, Jian-Guo Xu, Hao-Yue Zhang, Wei-Guo Liu, Tao You

“…GG, OR = 2.82, 95%CI [1.16, 6.86], P = 0.02) and recessive model (AA vs. GG + GA, OR = 3.09, 95%CI [1.36, 7.03], P = 0.007). …”
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Toward autism spectrum disorders and Williams-Beuren syndrome co-occurrence condition in Tunisian patients: Genetic insights by Rim Khelifi, Afef Jelloul, Houda Ajmi, Wafa Slimani, Sarra Dimassi, Khouloud Rjiba, Manel Dardour, Moez Gribaa, Ali Saad, Soumaya Mougou-Zerelli

“…Further analysis of the extended region deletion identified a gene closely located in the deleted region, the HIP1 gene, involved in the central nervous system trafficking protein.DiscussionThe recurrent deletion in WBS, as well as the mirror duplication, may contribute to ASD development in some cases, suggesting a potential involvement of the ASD genes pathway in this region. However, recessive genetic origins should also be considered, particularly in consanguineous families. …”
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Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study by Tamaki Kato, Mamoru Yokomura, Yutaka Osawa, Kensuke Matsuo, Yuji Kubo, Taihei Homma, Kayoko Saito

“…Abstract Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease. Most patients with SMA have a mutation in the survival motor neuron 1 (SMN1) gene on chromosome 5q. …”
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Molecular Patterns of MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever: A Retrospective Cohort Study by Amal R. Mansour, Ayman El-Shayeb, Nihal El Habachi, Mohamad A. Khodair, Doaa Elwazzan, Nermeen Abdeen, Marwa Said, Riham Ebaid, Noha ElShahawy, Amr Seif, Nadia Zaki

“…Familial Mediterranean Fever (FMF) is a hereditary autosomal recessive disease which is mainly seen in the Turks, Armenians, Arabs, and Jews. …”
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Interleukin IL1a and IL6 gene polymorphism: search for association with APOE genotype and clinical course of sporadic Alzheimer’s disease by G. Pšemeneckienė, K. Petrikonis, D. Rastenytė

“…Controlling by APOE4 status, the inheritance of IL1A -889C>T or IL6 -174G>C polymorphisms (dominant, overdominant, and recessive models) did not significantly alter the odds ratio for sporadic AD (p<0.05). …”
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Family planning and preimplantation testing: family experiences in congenital adrenal hyperplasia by Jessica L. Sandy, Jessica L. Sandy, Jessica L. Sandy, Grant Betts, Jessica L. Harper, Suzanne M. Nevin, Suzanne M. Nevin, Suzanne M. Nevin, Rebecca Deans, Rebecca Deans, Rebecca Deans, Kristen A. Neville, Kristen A. Neville

“…A better healthcare professional understanding of these experiences may subsequently help guide clinicians to better manage and support families of children with CAH and other autosomal recessive conditions.MethodsAll parents of current children of a tertiary service in 2020 with 21-hydroxylase deficient CAH who made an active decision regarding family planning after diagnosis of their index child were invited to participate in a semi-structured interview. …”
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Evaluation of eco-driving performance of electric vehicles using driving behavior-enabled graph spectrums: A naturalistic driving study in China by Hui Zhang, Yiyue Luo, Naikan Ding, Toshiyuki Yamamoto, Chenming Fan, Chunhui Yang, Wei Xu, Chaozhong Wu

“…However, current researches on ecological driving behavior mostly use structured data to reflect the characteristics of ecological driving behavior, and it is difficult to accurately reveal the recessive relationship between driving behavior and energy consumption. …”
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Diplomacia científica aplicada a la economía - Scientific diplomacy applied to economics by Vicente René Encalada Encarnación, Mayra Paola Mizhquero Jaramillo 

“…This study explored the role of scientific diplomacy within the Ecuadorian economy, assessing how governments responded to an unprecedented crisis in the history of macroeconomic reactions to recessive and resource-constrained scenarios. Methodology: the research applied a mathematical framework to link scientific diplomacy with economic dynamics, combining qualitative and quantitative analyses with a comprehensive review of scientific data. …”
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Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA by Paolo Peruzzo, Natascha Bergamin, Martina Bon, Sara Cappelli, Alessandra Longo, Elisa Goina, Cristiana Stuani, Emanuele Buratti, Andrea Dardis

“…Abstract Background Pompe disease (PD) is an autosomal recessive lysosomal storage disorder caused by the deficient activity of acid alpha glucosidase (GAA) enzyme due to mutations in the GAA gene. …”
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Special aspects of the clinical course and replacement therapy peculiarities in a patient with autoimmune polyglandular syndrome type 1: a clinical case by Maria G. Pavlova, Olga O. Golounina, Tatyana B. Morgunova, Natalya V. Likhodey, Marina F. Kalashnikova, Aleksandr G. Farmanov, Tamriko D. Khazaliya, Valentin V. Fadeev

“…Autoimmune polyglandular syndrome type 1 (APS-1) is an extremely rare monogenic autosomal recessive disease characterized by development of multiple organ failure with predominant endocrine glands involvement. …”
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FTO rs1121980 polymorphism contributes to coronary artery disease susceptibility in a Chinese Han population by Xue Min, Yu-Lan Zhou, Yun-Fei Qu, Zhao-Fu Liao, Heng Li, Jie Cheng, Li-Li Liang, Hai-Liang Mo, Zhu-Guo Wu, Xing-Dong Xiong

“…This SNP also showed significant associations under recessive genetic models for both CAD and MI (OR = 3.09, 95% CI = 1.52–6.27, P = 0.002 for CAD; OR = 5.40, 95% CI = 2.49–11.71, P < 0.001 for MI). …”
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Polymorphic variants of the genes for enzymes of the antioxidant system, apoptosis and inflammation as potential predictors of myocardial infarction by T. R. Nasibullin, V. V. Erdman, Y. R. Timasheva, I. A. Tuktarova, A. A. Petinseva, G. F. Korytina

“…The logistic regression analysis with various models demonstrated associations with MI of polymorphic variants of the genes CX3CR1 (rs3732378) (overdominant model – G/G + A/A vs A/G P = 0.0002, OR = 1.9), MSRA (rs10098474) (dominant model – T/T vs T/C + C/C P = 0.015, OR = 1.51), CCL2 (rs1024611) (recessive model – P = 0.0007 – A/A + A/G vs G/G OR = 2.63), BCL2 (rs12454712) (log-additive model – *C allele, P = 0.005, OR = 1.38). …”
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<i>ACE</i> I/D Genotype and Risk of Non-Contact Injury in Moroccan Elite Athletes: A Pilot Study by El Mokhtar El Ouali, Jihan Kartibou, Juan Del Coso, Rashmi Supriya, Ismail Laher, Zineb El Kettani, Hassan Ghazal, Najib Al Idrissi, Ayoub Saeidi, Abdelhalem Mesfioui, Hassane Zouhal

“…II = OR: 1.17, 95% CI: 0.15–16.56, <i>p</i> = 0.89) nor the recessive (DD vs. ID + II = OR: 1.31, 95% CI: 1.31–4.89, <i>p</i> = 0.69) models showed an increased risk of non-contact injury. …”
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Study of hereditary non-syndromic ophthalmic pathology of child population of the Karachay-Cherkess Republic: features and structure of nosological spectrum by V.V. Kadyshev, A.V. Marakhonov, S.I. Kutsev, R.A. Zinchenko

“…The prevalence of autosomal recessive pathology was at ratio 1:2268 of people.<br> <b>Conclusion</b>: autosomal dominant diseases make a greater contribution to the structure of the nosological spectrum — 1:1163. …”
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Le travail des peaux et du cuir durant le Haut-Empire à Bordeaux/Burdigala (Gironde), d’après les vestiges mis au jour sur le site de la rue Jean-Fleuret by Vanessa Elizagoyen, Christophe Sireix, Gisèle Allenet de Ribemont, Laurence Benquet, Philippe Borgard, Emilie Claud, Katleen Couchez, Marie-France Dietsch-Sellami, Stéphan Dubernet, Véronique Guitton, Jérôme Hénique, Yannick Le Digol, Martine Leguilloux, Sébastien Lepetz, Fabrice Leroy, Hélène Martin, Alain Queffelec, Stéphanie Raux, Nima Saedlou, Farid Sellami, Laure Simon, Serge Vigier

“…The use of lithic macro-tools and metal pins is also linked to the specific treatment of the hides of small ruminants, whether for finishing or to facilitate the impregnation of treatment products. A circular, recessed hearth may have been used to heat the room in which these activities took place, in this case acting as an oven to facilitate oil penetration during lubrication. …”
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Visual Environment Factors Influencing Staying Behaviors During Cycling on Countryside Greenways by Ting WEN, Yun ZHANG, Ming DU

“…By expanding the width of select road sections and introducing cantilevered structures or recessed micro-terraces along them, the creation of small yet safe “pocket” staying spaces can provide cyclists with suitable rest areas without compromising the overall flow of traffic. …”
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Weighted Gene Co-Expression Network of Growth Differentiation-Related lncRNAs and mRNAs in Plectropomus leopardus by Jin GAO, Jinye LIU, Fuxiao CHEN, Yongbo WANG, Shuyuan FU

“…Als2 plays a significant role in normal muscle development, and mutations in this gene can lead to autosomal recessive amyotrophic lateral sclerosis and related disorders. …”
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