Leydig Cell Tumor Associated with Testicular Adrenal Rest Tumors in a Patient with Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency by Nadia Charfi, Mahdi Kamoun, Mouna Feki Mnif, Neila Mseddi, Fatma Mnif, Nozha Kallel, Basma Ben Naceur, Nabila Rekik, Hela Fourati, Emna Daoud, Zainab Mnif, Mourad Hadj Sliman, Tahia Sellami-Boudawara, Mohamed Abid

“…Congenital adrenal hyperplasia (CAH) describes a group of inherited autosomal recessive disorders characterized by enzyme defects in the steroidogenic pathways that lead to the biosynthesis of cortisol, aldosterone, and androgens. …”
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A Rare Case of Severe Congenital RYR1-Associated Myopathy by Nicola Laforgia, Manuela Capozza, Lucrezia De Cosmo, Antonio Di Mauro, Maria Elisabetta Baldassarre, Francesca Mercadante, Anna Laura Torella, Vincenzo Nigro, Nicoletta Resta

“…Congenital myopathies are a group of rare inherited diseases, defined by hypotonia and muscle weakness. …”
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Synergistic effects of mutation and glycosylation on disease progression by Shodai Suzuki, Motoyuki Itoh, Motoyuki Itoh, Motoyuki Itoh

“…It is regulated by multiple glycosyltransferases and can be influenced by various factors. Inherited missense mutations in glycosylated proteins such as NOTCH3, Low-density lipoprotein receptor (LDLR), and Amyloid precursor protein (APP) could affect their glycosylation states, leading to cerebral small vessel disease, hypercholesterolemia, and Alzheimer’s disease, respectively. …”
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An Unusual Occurrence of Hepatic Granulomas and Secondary Sitosterolemia in Turner Syndrome by JayaKrishna Chintanaboina, Pragnesh R. Shah, Thomas R. Riley

“…One patient had sitosterolemia, a rare inherited autosomal recessive disorder of cholesterol metabolism, after she ingested β-sitosterol supplement and had worsening liver function tests and lipid panel. …”
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Susceptibility to Ventricular Arrhythmias Resulting from Mutations in FKBP1B, PXDNL, and SCN9A Evaluated in hiPSC Cardiomyocytes by Hector Barajas-Martinez, Maya Smith, Dan Hu, Robert J. Goodrow, Colleen Puleo, Can Hasdemir, Charles Antzelevitch, Ryan Pfeiffer, Jacqueline A. Treat, Jonathan M. Cordeiro

“…Background. We report an inherited cardiac arrhythmia syndrome consisting of Brugada and Early Repolarization Syndrome associated with variants in SCN9A, PXDNL, and FKBP1B. …”
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EPIGENETICS TODAY AND TOMORROW by B. F. Vanyushin

“…Epigenetics is a science of inheritable organism properties that are not associated with changes in the DNA nucleotide sequence but can be indirectly encoded in the genome. …”
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Challenges and considerations of genetic testing in von Willebrand disease by Omid Seidizadeh, Luciano Baronciani, Flora Peyvandi

“…von Willebrand disease (VWD) is the most common inherited bleeding disorder characterized by defects in the quantity or function of the von Willebrand factor (VWF). …”
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The Influence and Legacy of the Shepherding Movement on the Current Neo-Pentecostal Movement in South Africa by Kelebogile T. Resane

“…This reveals the influence that the Shepherding movement has left, after it has been inherited by the Neo-Pentecostal move-ment. …”
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A Case of Congenital Nephrotic Syndrome with Crescents Caused by a Novel Compound Heterozygous Pairing of NPHS1 Genetic Variants by Kyle N. Goodman, Pongpratch Puapatanakul, Kevin T. Barton, Mai He, Jeffrey H. Miner, Joseph P. Gaut

“…Congenital nephrotic syndrome is an autosomal recessive inherited disorder that manifests as steroid-resistant massive proteinuria in the first three months of life. …”
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A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation by Ana Isabel Sánchez, Jorge Armando Rojas

“…Additional features may include epicanthic folds, thin upper lip vermilion with thick lower lip vermilion, skeletal abnormalities, and severe language impairment. The disorder is inherited in an autosomal dominant manner caused by de novo mutations in the SMARCA2 gene, with most being missense mutations. …”
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Syndrome of Reduced Sensitivity to Thyroid Hormones: Two Case Reports and a Literature Review by Anastasios Anyfantakis, Dimitrios Anyfantakis, Irene Vourliotaki

“…Resistance to thyroid hormone (RTH) is an extremely rare dominantly inherited condition of impaired tissue responsiveness to thyroid hormone (TH). …”
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REVISITING THE CONCEPT OF THE JAVANESE ISLAM: GENEALOGY, ACADEMIC REPRESENTATION, AND CULTURAL STRATEGY by Achmad Tohe

“…Recent scholars also tend to have inherited this conception of Javanese Islam. They constantly debated the ‘true’ or the ‘purity’ of Javanese Islam, thus resulting in the two dominantly opposing views. …”
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Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India by Inusha Panigrahi, Sudha Rao, Shalu Verma Kumar, Divya Kumari, Parminder Kaur

“…There can be multiple affected family members if it is inherited, though many autosomal dominant ID cases would be due to de novo mutations are very less likely to recur in families. …”
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Portomesenteric Thrombosis Secondary to Acute Cholecystitis: A Case Report by Haseeb Ahmad Chaudhary, Ibrahim Yusuf Abubeker, Kamran Mushtaq, Khaldun Obeidat, Anand Kartha

“…Common risk factors include intra-abdominal infections, abdominal surgeries, malignancy, cirrhosis, and inherited thrombophilia. Early recognition and treatment of PMVT are important to avoid serious complications like mesenteric ischemia and infarction. …”
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Simultaneous Bilateral Spontaneous Pneumothorax Revealed Birt-Hogg-Dubè Syndrome by Alessandro Tamburrini, Francesco Sellitri, Federico Tacconi, Francesco Brancati, Tommaso Claudio Mineo

“…Birt-Hogg-Dubè syndrome is a rare inherited disorder clinically characterized by multiple fibrofolliculomas, renal tumors, lung cysts, and, in ~24% of the patients, occurrence of spontaneous pneumothorax. …”
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Spherical Harmonics Ylm(θ,ϕ): Positive and Negative Integer Representations of su(1,1) for l-m and l+m by H. Fakhri

“…Here, it is shown that simultaneous realization of both symmetries inherits the positive and negative (l-m)- and (l+m)-integer discrete irreducible representations for su(1,1) Lie algebra via the spherical harmonics on the sphere as a compact manifold. …”
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The role of GIS and remote sensing in tracking vegetation cover in the Tlagh and El-Abed Basins (Northeastern Morocco) from 1986 to 2018 by Mouadili Omar, Sbai Abdelkader

“…The Tlagh and El-Abed basins in the Taourirt-Guercif corridor are known for their diverse plant cover, especially in species naturally present for generations, termed 'inherited species'. However, this diversity needs to be more evenly distributed. …”
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Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V by Peter Chung, Hope Northrup, Misbah Azmath, Ricardo A. Mosquera, Shade Moody, Aravind Yadav

“…Distal hereditary motor neuropathies (dHMN) are a rare heterogeneous group of inherited disorders specifically affecting the motor axons, leading to distal limb neurogenic muscular atrophy. …”
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Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency by Ana María Navarro, Gabriela Mantilla, Jorge Andrés Fernández, Mario Fernando Unigarro, Alfonso Suárez, María Claudia Ortega

“…Cernunnos/XLF deficiency is a rare, severe combined immunodeficiency, inherited in an autosomal recessive pattern (OMIM number: 611290), related to the NHEJ1 gene. …”
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Liver Damage in Type 1 Diabetes Mellitus by A. O. Bueverov, A. V. Zilov

“…Its important link is a likely inherited non-physiological insulin supply to the tissue, especially at marked glycaemic fluctuations. …”
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