Exploration of the molecular mechanism behind a novel natural genic male-sterile mutation of 1205A in Brassica napus by Lijing Xiao, Jinze Zhang, Shaomin Guo, Hairun Jin, Qingjing Ouyang, Xu Long, Zhongbin Yan, Entang Tian

“…This study presents a spontaneous recessive genic male-sterile (RGMS) mutant of 1205A, which was employed to establish two two-line hybrid production systems: 1205AB and NT7G132AB. …”
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X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability by Verhoeven WM, Pfundt R, Engelke UF, Kluijtmans LA, Egger JI

“…Lack of TMLH enzyme activity is associated with developmental delay and autistic behaviours described as X-linked recessive autism, type 6 (OMIM#300872).Patient and Methods: Here, an institutionalized adult male patient with intellectual disability, autism, and challenging behaviours is presented in whom genetic analysis disclosed a novel pathogenic variant in the TMLHE gene. …”
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Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish by Linxue Meng, Zhixu Fang, Li Jiang, Yinglan Zheng, Siqi Hong, Yu Deng, Lingling Xie

“…Previous studies have reported that STT3A-CDG is caused by autosomal recessive inheritance. However, in this study, we propose that STT3A-CDG can be pathogenic through autosomal dominant inheritance. …”
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Study of vascular endothelial dysfunction in children with beta-thalassemia major before and after quercetin therapy by Fatma Al Zahraa Sherai, Maaly Mabrouk, Ibrahim Badraia, Adel Hagag, Eman Elaskary

“…Abstract Background Beta-thalassemia stands as an autosomal recessive disorder that occurs as a result of a defect in the beta-globin chain synthesis of hemoglobin. …”
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Prenatal Counseling and Diagnosis of COX20 Gene-Related Mitochondrial Complex IV Deficiency: A Case Report and Literature Review by Su J, Zeng L, Chen H, Tong J, Chen Y, Huang L, Deng L, Huang Y

“…Junyou Su,1,* Lingdong Zeng,2,* Hongfei Chen,1 Junru Tong,1 Yan Chen,1 Lingling Huang,1 Li Deng,1 Yan Huang1 1Department of Obstetrics, The Second Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, 530007, People’s Republic of China; 2Department of Pediatrics, The Second Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, 530007, People’s Republic of China*These authors contributed equally to this workCorrespondence: Li Deng; Yan Huang, Email dengli@gxmu.edu.cn; huangyanHY2020@163.comBackground: COX20-related mitochondrial complex IV deficiency is a rare autosomal recessive metabolic disorder that arises from biallelic loss-of-function mutations. …”
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Impact of elexacaftor-tezacaftor-ivacaftor in lung transplantation for cystic fibrosis in the United States by Tahuanty A. Pena, MD, MS, Brittany Wright, PharmD, Kalpaj R. Parekh, MBBS, Julia Kleney-Tait, MD, PhD

“…Background: Cystic fibrosis (CF) is an autosomal recessive condition leading to progressive lung disease and often necessitating lung transplantation. …”
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Interleukin-18 Gene Polymorphisms and Rheumatoid Arthritis Susceptibility: An Umbrella Review of Meta-Analyses by Yuehong Chen, Yali Ye, Huan Liu, Zhongling Luo, Qianwei Li, Qibing Xie

“…Data were reanalyzed using Review Manager Software 5.1, and Mantel–Haenszel random effects were applied for the five genetic models: allelic, recessive, dominant, homozygote, and heterozygote. …”
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Investigation of an Ultra-Wideband Optical Absorber with the Bandwidth from Ultraviolet C to Middle Infrared by Chih-Ching Hung, Xin-Yu Lin, Tung-Lung Wu, Shu-Han Liao, Ho-Sheng Chen, Cheng-Fu Yang

“…The first innovation involves the use of an inwardly recessed square design on the metallic Fe planes of the <i>h</i>4 and <i>h</i>6 layers, achieving high absorption across the 600–5800 nm range. …”
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Exploring Quality of Life in Adults Living With Late-onset Pompe Disease: A Combined Quantitative and Qualitative Analysis of Patient Perceptions from Australia, France, Italy, and... by Holly Lumgair, Lisa Bashorum, Alasdair MacCulloch, Elizabeth Minas, George Timmins, Drago Bratkovic, Richard Perry, Medi Stone, Vasileios Blazos, Elisabetta Conti, Raymond Saich

“…**Background:** Late-onset Pompe disease (LOPD) is a rare, autosomal recessive metabolic disorder that is heterogeneous in disease presentation and progression. …”
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Assessment of Anterior Segment Measurements with Swept Source Optical Coherence Tomography before and after Ab Interno Trabeculotomy (Trabectome) Surgery by Handan Akil, Ping Huang, Vikas Chopra, Brian Francis

“…Intraocular pressure, number of medications, and AS-OCT parameters, such as angle opening distance at 500 and 750 μm from the scleral spur (AOD500 and AOD750), trabecular-iris space area at 500 and 750 mm2 (TISA500, TISA750), angle recess area at 500 and 750 mm2 (ARA500, ARA750), trabecular iris angle (TIA), anterior chamber depth (ACD), anterior chamber width (ACW), and anterior chamber volume (ACV), were obtained before the surgery. …”
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SpikeDroidDB: AN INFORMATION SYSTEM FOR ANNOTATION OF MORPHOMETRIC CHARACTERISTICS OF WHEAT SPIKE by M. A. Genaev, E. G. Komyshev, Fu Hao, V. S. Koval, N. P. Goncharov, D. A. Afonnikov

“…The analysis of the variability of ears in form, length, and other traits allowed determination of the type of their genetic control: compactness is controlled by two recessive genes, awn type and hairi ness at the site of attachment of the spikelet to the axis is controlled by single dominant gene type, hairiness on the axis of the spike is controlled by two dominant genes.…”
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Peroxisome Proliferator-Activated Receptor Gamma Polymorphisms and Coronary Heart Disease by Jean Dallongeville, Carlos Iribarren, Jean Ferrières, Liisa Lyon, Alun Evans, Alan S. Go, Dominique Arveiler, Stephen P. Fortmann, Pierre Ducimetière, Mark A. Hlatky, Philippe Amouyel, Audrey Southwick, Thomas Quertermous, Aline Meirhaeghe

“…However, there was a borderline association under the recessive model (OR=1.29 [0.99–1.67], P=.06) that became significant when considering men only (OR=1.73 [1.20–2.48], P=.003). …”
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Genetics of Stay-Green Trait and Its Association with Leaf Spot Tolerance and Pod Yield in Groundnut by Rukiya Danful, Yussif Baba Kassim, Doris Kanvenaa Puozaa, Richard Oteng-Frimpong, Masawudu Abdul Rasheed, Alexander Wireko-Kena, Richard Akromah

“…Stay-green trait in groundnut was detected to be under the control of a single recessive gene and hence may be used to select for ELS and LLS resistance.…”
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OsLAP3/OsSTRL2, encoding a rice strictosidine synthase, is required for anther cuticle formation and pollen exine patterning in rice by Dai-bo Chen, Ran Zhou, Ran Zhou, Hui-min Wang, Pei-pei Zhang, Zheng-fu Yang, Zheng-fu Yang, Dan-dan Xuan, Ying-xin Zhang, Xiao-deng Zhan, Li-yong Cao, Li-yong Cao, Shi-hua Cheng, Lian-ping Sun, Lian-ping Sun

“…OsLAP3 is homologous to the maize ZmMS45, the core recessive nuclear sterile gene of maize Seed Production Technology (SPT), and localizes to the endoplasmic reticulum and plays a conserved role in anther development and pollenformation. …”
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Association of vitamin D receptor gene polymorphisms with rheumatoid arthritis by Noelia Marquez Pete, Cristina Perez Ramirez, Maria del Mar Maldonado Montoro, Fernando Martinez Martinez, Fernando Fernández-Llimos, Antonio Sánchez Pozo, María del Carmen Ramirez Tortosa, Alberto Jiménez Morales

“…FokI (rs2228570), BsmI (rs1544410), TaqI (rs731236), ApaI (rs7975232) and Cdx2 (rs11568820) gene polymorphisms were analyzed by TaqMan Results The recessive logistic regression model showed that the VDR FokIAA genotype was associated with lower risk of RA (p = 0.0255; OR = 0.58; 95% CI: 0.35–0.92). …”
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Runs of homozygosity in spontaneous abortions from families with recurrent pregnancy loss by N. A. Skryabin, S. A. Vasilyev, T. V. Nikitina, D. I. Zhigalina, R. R. Savchenko, N. P. Babushkina, M. E. Lopatkina, A. A. Kashevarova, I. N. Lebedev

“…Homozygotization of recessive mutations is one of the putative mechanisms of the influence of such inherited ROHs on RPL development. …”
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High-Density Genetic Map Construction and QTL Detection for Cotyledon Color in Faba Bean Based on Double Digest Restriction-Site Associated DNA Sequencing (ddRAD-Seq) by Changcai Teng, Hongyan Zhang, Wanwei Hou, Ping Li, Xianli Zhou, Yujiao Liu

“…Green cotyledons were controlled by one pair of recessive nuclear genes. Using the screened 1991 SNP markers, a high-density linkage map was constructed, with a coverage length of 1476.95 cM and an average map distance of 0.96 cM. …”
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Characterising SRD5A2 Gene Variants in 37 Indonesian Patients with 5-Alpha-Reductase Type 2 Deficiency by Nanis S. Marzuki, Firman P. Idris, Hannie D. Kartapradja, Alida R. Harahap, Jose R. L. Batubara

“…The 5-alpha-reductase type 2 deficiency (5ARD2) is an autosomal recessive condition associated with impairment in the conversion of testosterone to dihydrotestosterone. …”
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Adverse Events of the BCG (Bacillus Calmette–Guérin) and Rotavirus Vaccines in a Young Infant with Inborn Error of Immunity by Suleiman Al-Hammadi, Najla S. Alkuwaiti, Ghassan A. Ghatasheh, Huda Al Dhanhani, Hiba M. Shendi, Abdulghani S. Elomami, Farida Almarzooqi, Abdul-Kader Souid

“…This variant creates premature stop-gain in CD3D (CD3 antigen, delta subunit, autosomal recessive; MIM#186790), resulting in loss-of-function. …”
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The sporophytic type of fertility restoration in the A3 CMS-inducing cytoplasm of sorghum and its modification by plant water availability conditions by L. A. Elkonin, V. V. Kozhemyakin, M. I. Tsvetova

“…It is assumed that the expression of the fertility-restoring genes Rf3 and Rf4 in the hybrids with studied CMS lines starts already in the sporophyte tissues, normalizing the development of a certain part of the PGs carrying the recessive alleles of these genes (rf3 and rf4), which are involved in fertilization and give rise to sterile genotypes found in F2 and BC1 families. …”
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