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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

Distribution and Characteristics of Bacteria Isolated from Cystic Fibrosis Patients with Pulmonary Exacerbation by Soroor Erfanimanesh, Mohammad Emaneini, Mohammad Reza Modaresi, Mohammad Mehdi Feizabadi, Shahnaz Halimi, Reza Beigverdi, Vajiheh Sadat Nikbin, Fereshteh Jabalameli

“…Cystic fibrosis (CF) is an inherited recessive disorder characterized by recurrent and persistent pulmonary infections, resulting in lung function deterioration and early mortality. …”
Get full text

Hereditary Tyrosinemia Type 1 in Jordan: A Retrospective Study by Noor A. Megdadi, Ahmad K. Almigdad, Mo’men O. Alakil, Shahrazad M. Alqiam, Sumaia G. Rababah, Moshera A. Dwiari

“…Hereditary tyrosinemia type 1 (HT1) is a recessively inherited inborn error of metabolism affecting the final step of tyrosine catabolism. …”
Get full text

Immunoglobulin G4-related disease, constitutional symptoms, human leukocyte antigen b27 positivity, and sacroiliitis by Shallu Verma, Lubna Khurshid, Prasad Rao Voleti, Anand Narayan Malaviya

“…Detailed investigations including a whole-body positron-emission tomography (PET) scan that showed hypermetabolic soft tissue thickening in the periaortic recess and at the base of the heart encasing root and ascending aorta. …”
Get full text

Restoration of Genetic Code in Macular Mouse Fibroblasts via APOBEC1-Mediated RNA Editing by Sonali Bhakta, Hiroko Kodama, Masakazu Mimaki, Toshifumi Tsukahara

“…Menkes disease is a recessive X-chromosome-linked hereditary syndrome in humans, caused by defective copper metabolism due to mutations in the <i>ATP7A</i> gene, which encodes a copper transport protein. …”
Get full text

Myocardial Infarction and AGT p.Thr174Met Polymorphism: A Meta-Analysis of 7657 Subjects by Yan-yan Li, Hui Wang, Hao Wang, Yang-yang Zhang

“…A significant association between AGT p.Thr174Met polymorphism and MI was found under recessive (OR: 2.26, 95% CI: 1.35-3.77, P=0.002), dominant (OR: 1.131, 95% CI: 1.016-1.260, P=0.024), codominant (OR: 2.198, 95% CI: 1.334-3.621, P=0.002), and additive (OR: 1.363, 95% CI: 1.132-1.641, P=0.001) genetic models. …”
Get full text

Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review by Susanna Rizzi, Carlotta Spagnoli, Daniele Frattini, Francesco Pisani, Carlo Fusco

“…Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare congenital autosomal recessive metabolic disorder caused by pathogenic homozygous or compound heterozygous variants in the dopa decarboxylase (DDC) gene. …”
Get full text

Harlequin Ichthyosis: Case Series by Huriye Ezveci, Sukran Dogru, Fatih Akkus, Kazim Gezginc

“… Objective: Harlequin ichthyosis (HI) is an autosomal-recessive inherited disorder. The incidence is extremely rare and is reported to range from 1/300 000 to 1/1 000 000. …”
Get full text

<i>Allosaurus europaeus</i> (Theropoda: Allosauroidea) Revisited and Taxonomy of the Genus by André Burigo, Octávio Mateus

“…A detailed cranial description and specimen-based phylogeny were performed and resolved many of the open questions: (1) The diversity of <i>Allosaurus</i> is limited to three named species: <i>A. fragilis</i>, <i>A. europaeus</i>, and <i>A. jimmadseni</i>. (2) Nine autapomorphies were found in <i>A. europaeus</i>, confirming the validity of the species. (3) Phylogenetic analyses place both Portuguese specimens in the genus <i>Allosaurus</i>, based on the following synapomorphies: jugal bone lateral view, relative heights of quadratojugal prongs, the dorsal prong is equal in height, the jugal bone in lateral view shows shallow accessory pneumatization of the antorbital fossa, the palatine pneumatic recess shape is small, and lacrimal horn morphology has a triangular horn. (4) The Andrés specimen is placed with the <i>A. europaeus</i> and they are considered here to be the same species, which is paleo-geographically and biochronologically congruent. (5) <i>A. europaeus</i> and <i>A. jimmadseni</i> are sister taxa and closer to each other than to <i>A. fragilis</i>. …”
Get full text

TWO DESIGNS OF THE ELECTROMECHANICAL BRAKE EMBEDDED INTO AN ASYNCHRONOUS MOTOR by V. V. Solencov, V. V. Brel

“…The solution to this problem is the use of asynchronous motor with recessed combo braking device. However, for some mechanisms that do not require a smooth stop of the motor shaft and that have a speed of rotation of the motor shaft less than 1500 rpm, more simple and cheap solution would be the use of an electromechanical braking device with an air gap compensation. …”
Get full text

Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome by Thi Kim Lien Nguyen, Van Dem Pham, Thu Huong Nguyen, Trung Kien Pham, Thi Quynh Huong Nguyen, Huy Hoang Nguyen

“…Congenital nephrotic syndrome, a rare and severe disease, is inherited as an autosomal recessive trait. The disease manifests shortly after birth and occurs predominantly in families of Finnish origin but has now been observed in all countries and races. …”
Get full text

Drug repurposing screen for the rare disease ataxia-telangiectasia by Namrata Jayanth, Gurvan Mahé, Matthew Campbell, Mike Lipkin, Shushant Jain, Rhea van de Bospoort, Jennifer Thornton, Brad Margus, David F. Fischer

“…Ataxia Telangiectasia (A-T) is a rare, autosomal recessive genetic disorder characterized by a variety of symptoms, including progressive neurodegeneration, telangiectasia, immunodeficiency, and an increased susceptibility to cancer. …”
Get full text

The Impact of Exercise Play on the Biomechanical Characteristics of Single-Leg Jumping in 5- to 6-Year-Old Preschool Children by Zhanbing Song, Bojie Hou, Zhongqiu Ji, Guiping Jiang

“…The experimental group underwent a 12-week intervention, with self-designed exercise games conducted three times a week for 30 min each session, while the control group only participated in regular kindergarten recess activities and physical education classes. …”
Get full text

Case Study: Analyzing CFTR Mutations and SNPs in Pulmonary Fibrosis Patients with Unclear Symptoms by Sahar Yousaf, null Sumaira, Iqbal Bano, Atia Rehman, Samra Kousar, Muhammad Usman Ghani, Mariam Shahid

“…Cystic fibrosis (CF) is a genetic monogenic disorder inherited in an autosomal recessive manner, marked by persistent airway infections in the endobronchial region. …”
Get full text

Genetic Variations in Nucleotide Excision Repair Pathway Genes and Risk of Allergic Rhinitis by Wenlong Liu, Qingxiang Zeng, Yinhui Zeng, Yiquan Tang, Renzhong Luo

“…Three independent SNPs were identified as significantly associated with AR susceptibility, including ERCC1 rs2298881 C>A (recessive model: adjusted odds ratios OR=0.30, 95%confidence interval CI=0.18–0.50, P<0.0001), ERCC1 rs11615 G>A (dominant model: adjusted OR=1.44, 95%CI=1.04–2.01, P=0.030), and XPC rs2228001 A>C (dominant model: adjusted OR=0.68, 95%CI=0.49–0.95, P=0.024). …”
Get full text