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. …”
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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. …”
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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. …”
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Wilson Disease in a Turkish Population: Molecular Insights into an Old Disease with Reported and Novel Variants by Abdullatif Bakır, Vehap Topçu, Büşranur Çavdarlı

“…Objective: Wilson’s disease (WD) is a rare autosomal recessive genetic liver disorder with hepatic, neurological, or psychiatric manifestations between 1st to 5th decades. …”
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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. …”
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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.…”
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Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies by N. B. Toppings, J. M. McMillan, P. Y. B. Au, O. Suchowersky, L. E. Donovan

“…Classical Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations in WFS1, a gene implicated in endoplasmic reticulum (ER) and mitochondrial function. …”
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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. …”
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CD40 Gene Polymorphisms Associated with Susceptibility and Coronary Artery Lesions of Kawasaki Disease in the Taiwanese Population by Ho-Chang Kuo, Mei-Chyn Chao, Yu-Wen Hsu, Ying-Chi Lin, Ying-Hsien Huang, Hong-Ren Yu, Ming-Feng Hou, Chi-Di Liang, Kuender D. Yang, Wei-Chiao Chang, Chih-Lu Wang

“…In KD patients, polymorphisms of CD40 (rs4810485) showed significant association with CAL formation (P=0.0436, recessive model). Haplotype analysis did not yield more significant results between polymorphisms of CD40 and susceptibility/disease activity of KD. …”
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Marker-assisted identification of maize genotypes with improved protein quality by O. A. Orlovskaya, S. V. Kubrak, S. I. Vakula, L. V. Khotyleva, A. V. Kilchevsky

“…Amplification with three specific markers to the opaque-2 gene (phi057, phi112 and umc1066) revealed homozygous recessive o2 genotypes, associated with improved nutritional quality of the protein. …”
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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). …”
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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. …”
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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. …”
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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. …”
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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. …”
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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. …”
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Adrenoleukodystrophy: Symptoms, Treatment and Newborn Screening. Literature Review and Clinical Case by Laura Regelskytė, Rūta Praninskienė

“…It is inherited through the X chromosome in a recessive manner. Due to the ABCD1 gene mutation, there is a disorder of peroxisomes, thus very long-chain fatty acids are not degraded properly. …”
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The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants by Katayoun Heshmatzad, Nejat Mahdieh, Ali Rabbani, Abdolah Didban, Bahareh Rabbani

“…Familial glucocorticoid deficiency is a rare autosomal recessive genetic disorder which belongs to a group of primary adrenal insufficiency (PAI) and is mainly caused by mutations in the MC2R and MRAP genes. …”
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Interleukin-1 Receptor-Associated Kinase 4 Deficiency in a Greek Teenager by Panagiota Karananou, Anastasia Alataki, Efimia Papadopoulou-Alataki

“…It is a rare, autosomal recessive immunodeficiency that impairs toll/IL-1R immunity, except for the toll-like receptor (TLR) 3- and TLR4-interferon alpha (IFNA)/beta (IFNB) pathways. …”
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Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia by Siti Aishah Abdul Wahab, Yusnita Yakob, Mohd Khairul Nizam Mohd Khalid, Noraishah Ali, Huey Yin Leong, Lock Hock Ngu

“…Glycogen storage disease type 1a (GSD1a) is a rare autosomal recessive metabolic disorder characterized by hypoglycaemia, growth retardation, lactic acidosis, hepatomegaly, hyperlipidemia, and nephromegaly. …”
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