Human Embryonic Stem Cell-Derived Wilson’s Disease Model for Screening Drug Efficacy by Dongkyu Kim, Su-Bin Kim, Jung Lim Ryu, Heesu Hong, Jin-Hyuk Chang, Tack-Jin Yoo, Xiong Jin, Han-Jin Park, Choongseong Han, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo, Jong-Hoon Kim, Dong-Hun Woo

“…Particularly, hiPSCs generated from the genetic disease somatic cells could provide a good cellular model to screen potential drugs for treating human genetic disorders. However, the patient-derived cellular model has a limitation when the patient samples bearing genetic mutations are difficult to obtain due to their rarity. …”
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Inhibitors of cyclin-dependent kinases 4/6 for breast cancer patients with different somatic mutations of the PIK3CA gene by A. F. Nasretdinov, N. I. Sultanbaeva, Sh. I. Musin, O. N. Lipatov, A. A. Izmailov, R. T. Ayupov, K. V. Menshikov, A. V. Pushkarev, A. V. Sultanbaev

“…This marker turned out to be a mutation in the PIK3CA gene – one of the most frequent genetic disorders in breast cancer cells. According to the literature, the presence of this mutation negatively effects on endocrine therapy for breast tumors.The aim of this study was to analyze the frequency of mutations in the PIK3CA gene among patients with hormone-positive tumors, and the effectiveness of therapy with CDK4/6 inhibitors in this group of patients.Materials and methods. …”
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Postnatal Dynamic Ciliary ARL13B and ADCY3 Localization in the Mouse Brain by Katlyn K. Brewer, Kathryn M. Brewer, Tiffany T. Terry, Tamara Caspary, Christian Vaisse, Nicolas F. Berbari

“…Defects in cilia structure, protein localization, and function lead to genetic disorders called ciliopathies, which present with various clinical features that include several neurodevelopmental phenotypes and hyperphagia-associated obesity. …”
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Integration of heterogeneous medical and biological data with electronic personal health records by Savoska, Snezana, Ristevski, Blagoj, Blazheska-Tabakovska, Natasha, Jolevski, Ilija, Bocevska, Andrijana, Trajkovik, Vladimir

“…The lack of information on patients’ genetic disorders, especially when they are unaware of them, also contributes to increased patient deaths. …”
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RNF8 ubiquitinates RecQL4 and promotes its dissociation from DNA double strand breaks by Qunsong Tan, Kaifeng Niu, Yuqi Zhu, Zixiang Chen, Yueyang Li, Mengge Li, Di Wei, Adayabalam S. Balajee, Hongbo Fang, Yongliang Zhao

“…Human DNA helicase RecQL4 participates in DNA replication and repair, and loss of RecQL4 is associated with autosomal recessive genetic disorders characterized by genomic instability features. …”
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Case report: Benign and malignant tumors in adult patients with neurofibromatosis type 1: a comprehensive case series from a large oncologic reference center by Silvia Vidal-Millan, Zyanya Lucia Zatarain-Barrón, Kena Daza-Galicia, Kena Daza-Galicia, Daniela Shveid Gerson, Pavel Salvador Pichardo-Rojas, Alejandro Salazar-Pigeon, Talia Wegman-Ostrosky

“…Despite NF1 being one of the most common autosomal dominant genetic disorders, data from adult individuals in several world regions remain elusive, including Hispanics.MethodsThe present is a retrospective cohort study conducted among adult patients with a confirmed diagnosis of NF1 who attended a single cancer-reference center, the Instituto Nacional de Cancerología in Mexico City from 2001 to 2021. …”
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Does change in neurotransmitter brain status affect the growth of transplantable melanoma? by O. I. Kit, E. M. Frantsiyants, V. A. Bandovkina, I. V. Kaplieva, E. I. Surikova, L. K. Trepitaki, N. D. Cheryarina, I. M. Kotieva

“…Different stressful effects, CNP, and genetic disorders (urokinase gene knockout) contributed to changes in the brain BA system functions, leading to the activation of pro- or antitumor mechanisms.…”
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Combination of trio-based whole exome sequencing and optical genome mapping reveals a cryptic balanced translocation that causes unbalanced chromosomal rearrangements in a family w... by Min Xie, Jiangyang Xue, Yuxin Zhang, Ying Zhou, Qi Yu, Haibo Li, Qiong Li

“…This study supports that OGM has a unique advantage for detecting cryptic BTs, and can be used as a first-tier genetic test for the etiological diagnosis of infertility, RSAs, and other complex genetic disorders.…”
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Integrin alpha 6 homozygous splice-site mutation causes a new form of junctional epidermolysis bullosa in Charolais cattle by Mekki Boussaha, Arnaud Boulling, Valérie Wolgust, Lorraine Bourgeois-Brunel, Pauline Michot, Cécile Grohs, Nicolas Gaiani, Pierre-Yves Grivaud, Hélène Leclerc, Coralie Danchin-Burge, Marthe Vilotte, Julie Rivière, Didier Boichard, Jean-Marie Gourreau, Aurélien Capitan

“…Abstract Background Inherited epidermolysis bullosa (EB) is a group of painful and life-threatening genetic disorders that are characterized by mechanically induced blistering of the skin and mucous membranes. …”
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ScreenPlus: A comprehensive, multi-disorder newborn screening program by Nicole R. Kelly, Joseph J. Orsini, Aaron J. Goldenberg, Niamh S. Mulrooney, Natalie A. Boychuk, Megan J. Clarke, Katrina Paleologos, Monica M. Martin, Hannah McNeight, Michele Caggana, Sean M. Bailey, Lisa R. Eiland, Jaya Ganesh, Gabriel Kupchik, Rishi Lumba, Suhas Nafday, Annemarie Stroustrup, Michael H. Gelb, Melissa P. Wasserstein

“…The increasing availability of novel therapies highlights the importance of screening newborns for rare genetic disorders so that they may benefit from early therapy, when it is most likely to be effective. …”
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Percutaneous Endoscopic Gastrostomy Tubes Can Be Considered Safe in Children: A Single-Center 11-Year Retrospective Analysis by Antonia Jeličić Kadić, Tea Radošević, Vanda Žitko, Ranka Despot, Zenon Pogorelić, Carlos Martin Llorente Muñoz, Edita Runjić, Tanja Kovačević, Tatjana Ćatipović Ardalić, Branka Polić, Joško Markić

“…According to the indication for PEG placement, patients were divided into five categories: central nervous system (CNS) diseases, neuromuscular diseases, genetic disorders, metabolic diseases, and group of children with polytrauma. …”
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Increased aperiodic gamma power in young boys with Fragile X Syndrome is associated with better language ability by Carol L. Wilkinson, Charles A. Nelson

“…Limitations The study sample size was small, although comparable to other human studies in rare-genetic disorders. Findings are also limited to males in the age range studied. …”
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Colesterol e composição dos ácidos graxos nas dietas para humanos e na carcaça suína Fatty acids concentration and level of cholesterol in diets for humans and present in swine car... by Maria do Carmo Mohaupt Marques Ludke, Jorge López

“…It is a known fact that cholesterol consumption is a risk factor for people who have genetic disorders in the metabolic regulation of cholesterol. …”
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Screening of Hemoglobin disorder in non-endemic region by Shiva Raj K.C.

“…Counselling is indicated in all persons with genetic disorders, especially when the family is at risk of a severe form of disease that may be prevented.…”
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Intron Retention: What that means for the biologist by Ruby Dhar, Arun Kumar, Subhradip Karmakar

“…Aberrant intron retention has been associated with certain genetic disorders and cancers. Understanding the mechanisms and functional consequences of intron retention is crucial for unraveling the complexity of gene regulation and its impact on cellular processes. …”
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DGH-GO: dissecting the genetic heterogeneity of complex diseases using gene ontology by Muhammad Asif, Hugo F. M. C. Martiniano, Andre Lamurias, Samina Kausar, Francisco M. Couto

“…Different diseases sharing genes of such groups show related clinical outcomes that further restrict our understanding of disease mechanisms, thus, limiting the applications of personalized medicine approaches to complex genetic disorders. Results Here, we present an interactive and user-friendly application, called DGH-GO. …”
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Molecular Pathogenesis of Cholangiocarcinoma by Peter L. Labib, George Goodchild, Stephen P. Pereira

“…Other risk factors include inflammatory disorders (such as inflammatory bowel disease and chronic pancreatitis), toxins (e.g. alcohol and tobacco), metabolic conditions (diabetes, obesity and non-alcoholic fatty liver disease) and a number of genetic disorders. Molecular pathogenesis of cholangiocarcinoma Regardless of aetiology, most risk factors cause chronic inflammation or cholestasis. …”
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Parental coping with uncertainties along the severe combined immunodeficiency journey by Oksana Kutsa, Sara M. Andrews, Erin Mallonee, Angela Gwaltney, Alissa Creamer, Paul K. J. Han, Melissa Raspa, Barbara B. Biesecker

“…Abstract Background Severe combined immunodeficiency (SCID) is a group of rare genetic disorders that cause disruption in immune system functioning. …”
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Understanding the mental health impact and needs of public healthcare professionals during COVID-19 in Pakistan : a qualitative study by Hussain Jafri, Sameen Siddiqi, Zafar Fatmi, Bushra Khan, Anam Shahil Feroz, Noreen Afzal, Waqas Hameed, Bilal Iqbal Avan, Mansoor Ali Wassan

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Orthopaedic and somatic status in patients with osteogenesis imperfecta by Eduard R. Mingazov, Tat'iana V. Ryabykh, Dmitry A. Popkov

“…Introduction Osteogenesis imperfecta (OI) is a group of rare and relatively diverse genetic disorders, characterized by frequent fractures, bone deformities, low bone mineral density and osteopenia. …”
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