Gene drive-based population suppression in the malaria vector Anopheles stephensi by Xuejiao Xu, Jingheng Chen, You Wang, Yiran Liu, Yongjie Zhang, Jie Yang, Xiaozhen Yang, Bin Chen, Zhengbo He, Jackson Champer

“…Our results show that the drive was recessive sterile in both females and males, with various intersex phenotypes in drive homozygotes. …”
Get full text

Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report by Zakaria Kasmi, Imane Ain El Hayat, Zahra Aadam, Abderrahmane Errami, Ibtihal Benhsaien, Jalila EL Bakkouri, Dalal Ben Sabbahia, Meryem Atrassi, Ahmed Aziz Bousfiha, Fatima Ailal

“…Abstract Glycogen Storage Disease Type Ib (GSD-Ib) is a rare autosomal recessive metabolic disorder caused by mutations in SLC37A4, leading to a deficiency in glucose-6-phosphate translocase. …”
Get full text

Arrhythmias and Sudden Cardiac Death in Beta-Thalassemia Major Patients: Noninvasive Diagnostic Tools and Early Markers by Vincenzo Russo, Enrico Melillo, Andrea A. Papa, Anna Rago, Celeste Chamberland, Gerardo Nigro

“…Beta-thalassemias are a group of inherited, autosomal recessive diseases, characterized by reduced or absent synthesis of beta-globin chains of the hemoglobin tetramer, resulting in variable phenotypes, ranging from clinically asymptomatic individuals to severe anemia. …”
Get full text

Enterokinase deficiency associated with novel TMPRSS15 gene mutations: a case report by Yunxi Li, Ruijuan Li, Yanyan Pan, Weiran Zhou, Xingcui Wang, Linlin Dong, Xuemei Liu, Hongxia Zhang

“…BackgroundEnterokinase deficiency (EKD,OMIM #226200) is a rare autosomal recessive genetic disorder caused by mutations in transmembrane protease serine 15 (TMPRSS15). …”
Get full text

A Case of Xanthoma of Bilateral Tendoachilles Reconstructed with Fascia Lata Graft X by S Jaikish, Balaji Sambandam

“…Aims and background: Cerebrotendinous xanthoma is an autosomal recessive disorder characterized by a lack of production of primary bile acids and accumulation of cholestanol in various tissues like the brain, spinal cord, peripheral nerves, eyes, and tendon in the form of xanthomas. …”
Get full text

Recapitulation of Candidate Systemic Lupus Erythematosus-Associated Variants in Koreans by Ki-Sung Kwon, Hye-Young Cho, Yeun-Jun Chung

“…This association was also significant in two other models (dominant and recessive). The other four SNPs did not show a significant association. …”
Get full text

LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient by Ivanka Dimova, Ivo Kremensky

“…Congenital muscle dystrophies (CMD) are genetically and clinically heterogeneous hereditary myopathies mainly with autosomal recessive type of inheritance. The most common form worldwide is considered to be merosin-deficient muscle dystrophy type 1A, called MDC1A (due to laminin-α2 defects as a result of LAMA2 gene mutation), accounting for 30-40% of total cases of CMD. …”
Get full text

New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications by Eva Sticova, Milan Jirsa, Joanna Pawłowska

“…Hereditary cholestasis is a heterogeneous group of rare autosomal recessive liver disorders, which are characterised by intrahepatic cholestasis, pruritus, and jaundice and caused by defects in genes related to the secretion and transport of bile salts and lipids. …”
Get full text

Spondylocostal Dysplasia in a 7-Year-Old Sri Lankan Girl Causing Restrictive Lung Disease: A Case Report and Review of the Literature by Phirarthana Kamalanathan, Meranthi Fernando, Rohan Jayawardena, A. Upasena, Shaman Rajindrajith, Sachith Mettananda

“…Spondylocostal dysplasia (SCD) is a rare costovertebral malformation characterised by short-trunk short stature. It is a recessively inherited disorder, and commonly identified disease-causing mutations are in DLL3 gene. …”
Get full text

Determination of mutagenicity of chemical compounds, physical factors and environmental pollutants by the Drosophila melanogaster wing somatic mutation and recombination test by L. P. Zakharenko, I. K. Zakharov

“…The method is based on the influence of the agents under study on the dividing cells of the wing imaginal discs of larvae heterozygous for recessive mutations, marking the wing cells. The mutations, multi wing hairs (mwh; 3 – 0.3) and flare (flr; 3 – 38.8), are located on the left arm of chromosome 3. …”
Get full text

An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine by Jiyoung Kim, Angela Pipitone Dempsey, Sun Young Kim, Meral Gunay-Aygun, Hilary J. Vernon

“…Pyridoxine dependent-developmental and epileptic encephalopathy (PD-DEE) or pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in ALDH7A1. …”
Get full text

Phenotypic variability and the gender paradox in the R363C variant of Fabry disease by Alison C. Leslie, Jeanine Jarnes, Alia Ahmed, Sofia Shrestha, Jeffrey Wang, Chester B. Whitley, Nishitha R. Pillai

“…Although Fabry disease is X‐linked, GLA gene variants in females can exhibit a wide range of symptoms, challenging the traditional view of Fabry as an X‐linked recessive disease. A family is presented here with a 36‐year‐old female who is symptomatic with chronic kidney disease and her oligosymptomatic 70‐year‐old father, both of whom have a heterozygous and hemizygous GLA pathogenic variant, respectively, c.1087C>T (p.R363C). …”
Get full text

Association between Toll-Like Receptor 4 and Occurrence of Type 2 Diabetes Mellitus Susceptible to Pulmonary Tuberculosis in Northeast China by Yuze Li, Dianzhong Li, Jinfeng Zhang, Shurui Liu, Haijun Chen, Kun Wu

“…No statistically significant differences in genotype distributions were observed between T2DMTB patients and patients with T2DM when studied using the recessive and dominant genetic models. How two diseases with contradictory nutritional statuses can occur in the same person is difficult to explain from environmental factors perspective alone. …”
Get full text

Maintenance of inflorescence size variability within common buckwheat (<i>Fagopyrum esculentum</i> Moench) cultivars of various origin: the phenomenon and its possible causes by A. N. Fesenko, I. N. Fesenko, O. V. Biryukova

“…Earlier we documented a wide variation in the inflorescence size within one of the most genetically uniform common buckwheat (Fagopyrum esculentum Moench) cultivar ‘Skorospelaya 86’, with larger sizes controlled by recessive alleles of multiple genes. The objective of the present work was to analyze the variation within a set of buckwheat cultivars representing different morphological types of the crop, and try to make out possible mechanisms that underlie it. …”
Get full text

Novel Human Induced Pluripotent Stem Cell-Based Model for Retinal Pigment Epithelial Cells to Reveal Possible Disease Mechanisms for Macular Degeneration in Pseudoxanthoma Elasticu... by Taina Viheriälä, Heidi Hongisto, Lyydia Saari, Marika Oksanen, Tanja Ilmarinen, Suvi Väärämäki, Hannu Uusitalo, Pasi Nevalainen, Heli Skottman

“…Pseudoxanthoma elasticum (PXE) is a rare metabolic disease with autosomal recessive inheritance. The manifestation in PXE is represented by retinal complications, pseudoxanthomas of the skin folding areas, and arterial calcification. …”
Get full text

Increasing the Wear Resistance of Stamping Tools for Coordinate Punching of Sheet Steel Using CrAlSiN and DLC:Si Coatings by Sergey N. Grigoriev, Marina A. Volosova, Ilya A. Korotkov, Vladimir D. Gurin, Artem P. Mitrofanov, Sergey V. Fedorov, Anna A. Okunkova

“…The punching of holes or recesses on computer numerical control coordinate presses occurs in sheets at high speeds (up to 1200 strokes/min) with an accuracy of ~0.05 mm. …”
Get full text

TACSTD2 in gelatinous drop-like corneal dystrophy: variant functional analysis and expression in the cornea after limbal stem cell transplantation by Liubov O. Skorodumova, Ekaterina N. Grafskaia, Daria D. Kharlampieva, Dmitry I. Maltsev, Tatiana V. Petrova, Alexandra V. Kanygina, Elena V. Fedoseeva, Pavel V. Makarov, Boris E. Malyugin

“…Abstract Gelatinous drop-like corneal dystrophy (GDLD) is a rare autosomal recessive eye disease. GDLD is characterized by the loss of barrier function in corneal epithelial cells (CECs) and amyloid deposition due to pathogenic variants in the TACSTD2 gene. …”
Get full text

AlGaN/GaN Heterostructure Schottky Barrier Diodes with Graded Barrier Layer by Honghui Liu, Zhiwen Liang, Chaokun Yan, Yuebo Liu, Fengge Wang, Yanyan Xu, Junyu Shen, Zhengwen Xiao, Zhisheng Wu, Yang Liu, Qi Wang, Xinqiang Wang, Baijun Zhang

“…Furthermore, on this basis, a recessed anode structure is utilized to expect a smaller Jr. …”
Get full text

An Update on the Genetics of Usher Syndrome by José M. Millán, Elena Aller, Teresa Jaijo, Fiona Blanco-Kelly, Ascensión Gimenez-Pardo, Carmen Ayuso

“…Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. …”
Get full text

Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005–2015): New Studies and a Literature Rev... by Jing Wu, Wei-Fan Wang, Yi-Dan Zhang, Tong-Xin Chen

“…X-linked CGD due to CYBB gene mutations accounted for 75% of the cases, and 11 of them were novel mutations. Autosomal recessive inheritance accounted for 6% patients, including 1 patient with CYBA, 1 with NCF1, and 1 with NCF2 gene mutations.…”
Get full text