A Rare Case Presentation of Synovial Haemangioma of the Knee by Arun Karthik Ravichandran, Rajavel, Gowtham Senguttavan, Sharath Rajkumar, Saravanan Vasudevan

“…Following further investigations, an MRI of the left knee showed evidence of T1 hypointense and T2 moderate Short Tau Inversion Recovery (STIR) hyperintense soft-tissue lesions involving the anterior and posterior recess of the synovium of the knee joint with finger-like projections, which is considered one of the definitive findings of synovial haemangioma. …”
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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

“…Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease due to specific enzyme deficiencies in the adrenal steroidogenesis pathway. …”
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The Influence of Interleukin 17A and IL17F Polymorphisms on Chronic Periodontitis Disease in Brazilian Patients by Joana Maira Valentini Zacarias, Emília Ângela Sippert, Patrícia Yumeko Tsuneto, Jeane Eliete Laguila Visentainer, Cléverson de Oliveira e Silva, Ana Maria Sell

“…IL17A AA genotype was more frequent in patients with chronic periodontitis (CP) in the codominant and recessive models (P=0.09; OR = 2.53 and P=0.03; OR = 2.46, resp.), the females with CP (P=0.01, OR = 4.34), Caucasoid patients with CP (P=0.01, OR = 3.45), and nonsmoking Caucasian patients with CP (P=0.04, OR = 3.51). …”
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The PROPHECI trial: a phase II, double-blind, placebo-controlled, randomized clinical trial for the treatment of pseudoxanthoma elasticum with oral pyrophosphate by Laetitia Clotaire, Isabelle Rubera, Christophe Duranton, Jocelyn Gal, Emmanuel Chamorey, Hélène Humeau, Samir Yamani, Christine Chiaverini, Serge Willoteaux, Bernard Padovani, Laurie Mourozeau, Adam Mainguy, Stéphanie Baillif, Ludovic Martin, Georges Leftheriotis

“…Pseudoxanthoma Elasticum (PXE, OMIM 264800) is an autosomal, recessive, metabolic disorder characterized by progressive ectopic calcification in the skin, the vasculature and Bruch’s membrane. …”
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A compound heterozygous ADAMTS13 mutation causes congenital thrombotic thrombocytopenic purpura: a case report by Yezi Huang, Lixia Zhou, Yuan Song, Wanting Zou, Aiping Tang, Si Tao, Duozhuang Tang

“…This rare autosomal recessive genetic disorder is often misdiagnosed as immune thrombocytopenia (ITP) or hemolytic uremic syndrome (HUS). …”
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Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient by Melisa Taboas, Cecilia Fernández, Susana Belli, Noemi Buzzalino, Liliana Alba, Liliana Dain

“…Congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for 90%–95% of cases. This autosomal recessive disorder has a broad spectrum of clinical forms, ranging from severe or classical, which includes the salt-wasting and simple virilizing forms, to the mild late onset or nonclassical form. …”
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Comparison of the risk of obesity in the FTO rs9939609 genotype in a multiethnic group in Asia systematic review and meta-analysis by Donna Pratiwi, Miko Sidartha, Elvan Wiyarta, Elvan Wiyarta, I Wayan Agustinus Harimawan, Ni Made Dwi Asti Lestari, Bonglee Kim, Nurpudji Astuti Taslim, Trina Ekawati Tallei, Fahrul Nurkolis, Rony Abdi Syahputra

“…TT showed POR 95%Cl = 1.95 (1.36–2.80); p < 0.00001, in AA vs. TA genetic recessive model, POR 95%Cl =1.31 (1.07–1.60); p = 0.002, then the final model of TA vs. …”
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Vitamin D Receptor Genetic Variations May Associate with the Risk of Developing Late Fracture-Related Infection in the Chinese Han Population by Xing-qi Zhao, Kun Chen, Hao-yang Wan, Si-ying He, Han-jun Qin, Bin Yu, Nan Jiang

“…Significant associations were observed between rs7975232 and FRI susceptibility in the recessive (P=0.019, OR=0.530, 95% CI 0.310–0.906) model. …”
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Association between rs20456 and rs6930913 of Kinesin-Like Family 6 and Hypertension in a Chinese Cohort by Yan-li Chen, Li-Qiang Zheng, Tie-Jun Li, Zhao-Qing Sun, Ying Hao, Bao-Gang Wu, Ying-Xian Sun

“…No interactions were found between smoking and rs6930913, except those with dominant or recessive genetic models (both Ps=0.006). There were no interactions between KIF6 and overweight (all Ps>0.05). …”
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APOE Genetic Polymorphism rs7412 T/T Genotype May Be a Risk Factor for Essential Hypertension among Hakka People in Southern China by Hui Rao, Heming Wu, Zhikang Yu, Qingyan Huang

“…The APOE rs429358 and MTHFR rs1801133 genotypes in co-dominant, dominant, and recessive models were not significant risk factors for hypertension. …”
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Fine mapping and expression characteristics analysis of male-sterile gene BrRNR1 in Chinese cabbage (Brassica rapa L. ssp. pekinensis) by Meihui Xue, Jiahang Li, Ruiqi Liao, Junjie Xu, Mingwei Zhou, Runpeng Yao, Zhiyong Liu, Hui Feng, Shengnan Huang

“…Genetic analysis showed that a single recessive nuclear gene controlled the sterile phenotype of mutant msm7. …”
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The effect of the <i>Ant25</i>, <i>Ant26</i> and <i>Ant27</i> loci controlling proanthocyanidin synthesis in barley (<i>Hordeum vulgare</i> L.) grain on plant growth and developmen... by I. V. Totsky, R. Li, O. Yu. Shoeva

“…Mutants at the Ant25, Ant26 and Ant27 loci with unknown molecular functions can be used as donors of recessive alleles of the genes specifically controlling proanthocyanidin synthesis in barley grain. …”
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Simulating Genetic Mixing in Strongly Structured Populations of the Threatened Southern Brown Bandicoot (Isoodon obesulus) by John G. Black, Steven J. B. Cooper, Thomas L. Schmidt, Andrew R. Weeks

“…ABSTRACT Genetic mixing aims to increase the genetic diversity of small or isolated populations, by mitigating genetic drift and inbreeding depression, either by maximally increasing genetic diversity, or minimising the prevalence of recessive, deleterious alleles. However, few studies investigate this beyond a single generation of mixing. …”
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Inheritance of juvenile resistance to powdery mildew in barley accessions from Ethiopia by R. A. Abdullaev, O. V. Yakovleva, T. V. Lebedeva

“…Ten barley accessions with one effective recessive resistance allele and four with the dominant control of the trait may be recommended for immunity-targeted breeding.…”
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Aménagements de berge monumentaux d’époque laténienne et romaine à Besançon (Doubs) by Christophe Gaston

“…The preserved starting point of the internal slope along this path makes it possible to estimate the width of the rampart as being 6 m for a height that must have been around 4,5 to 5 m at the level of the parapet walkway. A recessed area in this masonry could correspond to a postern-gate to access the landing stage. …”
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Association of functional variants in miRNA genes with the risk of coronary heart disease by Taqweem Ul Haq, Muhammad Riaz Khan, Sajjad Ali, Tariq Aziz, Thamer H. Albekairi, Aftab Ali Shah

“…Results The codominant [χ2 = 8.058, 2; P value = 0.0178], and recessive (CC vs GC + GG) [OR = 0.4535 (0.2439–0.8669); P value = 0.0187] models demonstrated a statistically significant association between MIR222 (rs2858060) and CHD. …”
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Technical considerations towards commercialization of porcine respiratory and reproductive syndrome (PRRS) virus resistant pigs by A. Mark Cigan, Pieter W. Knap

“…While this achievement represents a major step towards solving an important disease in livestock, to realize the positive impact on animal health while benefiting the pork industry and consumers, it is necessary to introduce this recessive disease resistance allele into commercial breeding populations. …”
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Fetal medicine and current practice of prenatal screening by Akshatha Prabhu

“…The option for NIPS is now preferred by most parents undergoing pre-conception genetic counselling and confirmed to be carriers for an autosomal recessive genetic disease. The prenatal screening is the best choice for secondary prevention of genetic condition. …”
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Characteristics of Anterior Segment in Congenital Ectopia Lentis: An SS-OCT Study by Haotian Qi, Guangming Jin, Minjie Zou, Charlotte Young, Liyan Liu, Zhangkai Lian, Dongwei Guo, Zhenzhen Liu, Danying Zheng

“…Axial length (AL) and anterior segment parameters including anterior chamber width (ACW), angle open distance (AOD), angle recess area (ARA), trabecular-iris space area (TISA), and trabecular-iris angle (TIA) were measured. …”
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Factor VIII Intron 22 Inversion in Severe Hemophilia A Patients in Palestine by Caesar Mahmoud Abu Arra, Fekri Samarah, Nael Sudqi Abu Hasan

“…Hemophilia A is an X-linked recessive bleeding disorder caused by mutations in FVIII gene with an incidence of 1 in 5,000 to 10,000 live born males. …”
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