Mediation model with a categorical exposure and a censored mediator with application to a genetic study. by Jian Wang, Jing Ning, Sanjay Shete

“…In genetic studies, the additive genetic model is the most commonly used model because it can detect effects from either recessive or dominant models (or any model in between). …”
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Genetics of Nonsyndromic Congenital Hearing Loss by Oguz Kadir Egilmez, M. Tayyar Kalcioglu

“…Nonsyndromic HL can be categorised by mode of inheritance, such as autosomal dominant (called DFNA), autosomal recessive (DFNB), mitochondrial, and X-linked (DFN). …”
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Trichoscopy in Unveiling the Triad of Netherton Syndrome by H Bangaru, D Ashwini

“…Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by the triad of congenital ichthyosiform erythroderma or ichthyosis linearis circumflexa (ILC), hair shaft abnormalities, and atopic diathesis (elevated serum IgE) caused by mutations in serine protease-inhibitor (SPINK5) gene located on chromosome 5q31–32. …”
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Ochronotic arthropathy: skeletal manifestations and orthopaedic treatment by Khaled Hamed Salem, Alyaa Diaa Elmoghazy

“…Alkaptonuria is an extremely rare disorder of tyrosine metabolism caused by an autosomal recessive enzymatic deficiency of homogentisic acid (HGA) oxidase, causing its accumulation in collagenous structures, especially in hyaline cartilage. …”
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An Indian Case Study on Mitochondrial Neurogastrointestinal Encephalomyopathy by Shabana Kareem, Reemy Sara Mathai

“…Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a unique autosomal recessive disorder characterized by mitochondrial changes resulting from mutations in the TYMP gene, responsible for encoding thymidine phosphorylase. …”
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Dimerization-dependent serine protease activity of FAM111A prevents replication fork stalling at topoisomerase 1 cleavage complexes by Sowmiya Palani, Yuka Machida, Julia R. Alvey, Vandana Mishra, Allison L. Welter, Gaofeng Cui, Benoît Bragantini , Maria Victoria Botuyan, Anh T. Q. Cong, Georges Mer, Matthew J. Schellenberg, Yuichi J. Machida

“…Here, we show that FAM111A is a dimerization-dependent protease containing a narrow, recessed active site that cleaves substrates with a chymotrypsin-like specificity. …”
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Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis by Kimia Najafi, Roxana Kariminejad, Kaveh Hosseini, Azadeh Moshtagh, Gole Maryam Abbassi, Neda Sadatian, Masood Bazrgar, Ariana Kariminejad, Mohamad Hassan Kariminejad

“…Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelinating leukodystrophy characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. …”
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Miglustat Reverts the Impairment of Synaptic Plasticity in a Mouse Model of NPC Disease by G. D’Arcangelo, D. Grossi, M. Racaniello, A. Cardinale, A. Zaratti, S. Rufini, A. Cutarelli, V. Tancredi, D. Merlo, C. Frank

“…Niemann-Pick type C disease is an autosomal recessive storage disorder, characterized by abnormal sequestration of unesterified cholesterol within the late endolysosomal compartment of cells and accumulation of gangliosides and other sphingolipids. …”
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Idiopathic Infantile Arterial Calcification: A Possible Cause of Refractory Cardiopulmonary Failure in Infancy by A. Nael, P. J. Siaghani, D. Chen, S. G. Romansky, L. Shane

“…Idiopathic Infantile Arterial Calcification is a rare autosome recessive disease characterized by extensive calcification of medium and large arteries. …”
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Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene by Gulden Diniz, Hulya Tosun Yildirim, Sarenur Gokben, Gul Serdaroglu, Filiz Hazan, Kanay Yararbas, Ajlan Tukun

“…Limb-girdle muscular dystrophy type 2D (LGMD-2D) is caused by autosomal recessive defects in the alpha-sarcoglycan gene located on chromosome 17q21. …”
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Primary exocrine pancreatic insufficiency in children (a clinical case of Shwachman-Diamond syndrome) by V.S. Berezenko, Yu.I. Proshchenko, Kh.Z. Mykhayluk, M.B. Dyba, O.M. Tkalik, Yu.O. Savenko

“…Shwachman-Diamond syndrome is an autosomal recessive disease characterized by absolute exocrine pancreatic insufficiency and is the second most common form of primary exocrine pancreatic insufficiency. …”
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Anesthesia Management in Scoliosis Surgery of Patients with Friedreich’s Ataxia: A Report of Four Cases by Muhammed Köse, Ercan Bal, Şemsi Mustafa Aksoy, Ayşe Lafçı

“…Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease, which may be accompanied by scoliosis, cardiac, endocrine and pulmonary comorbidities. …”
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Neonatal necrotizing enterocolitis complicated by glutaric acidemia type II: a case report by Yuli Zhang, Yuli Zhang, Longfei Chen, Miao Duan

“…Glutaric acidemia type II (GAII) is an autosomal recessive genetic metabolic disorder associated with mitochondrial dysfunction, characterized by multiple acyl-CoA dehydrogenase deficiency that affects fatty acid metabolism. …”
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ANALYSIS OF THE ALLELIC VARIATION OF THE VRN-1 AND PPD-1 GENES IN SIBERIAN EARLY AND MEDIUM EARLY VARIETIES OF SPRING WHEAT by I. E. Likhenko, A. I. Stasyuk, A. B. Shcherban’, A. F. Zyryanova, N. I. Likhenko, E. A. Salina

“…Six haplotypes were identified for Vrn-1 genes, including two most abundant with two dominant genes Vrn-A1 and Vrn-B1 against the background of recessive Ppd-D1b genes, which cause sensitivity to photoperiod. …”
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Common vetch (<i>Vicia sativa</i>) multi-podded mutants for enhanced commercial seed production by Aleksandar Mikić, Vojislav Mihailović, Đura Karagić, Branko Milošević, Dragan Milić, Sanja Vasiljević, Snežana Katanski, Dalibor Živanov

“…Crossing these mutant genotypes with wild-type ones demonstrated that the number of pods in this vetch species is controlled by two genes, orthologs to FN and FNA in pea. If both genes are recessive, a plant will have more than two flowers per each node and, depending on not yet clarified environmental factors, more than two pods per node. …”
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Physiotherapy and Rehabilitation in a Child with Joubert Syndrome by Özge İpek, Özge Akyolcu, Banu Bayar

“…Joubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. …”
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Osteopetrosis and Hip Fracture. Case Report and Literature Review by Liyanira Alonso Leiva, José Julio Requeiro Molina, Ana María Machado Consuegra

“…It is transmitted in both an autosomal dominant and recessive manner. Its early diagnosis makes it possible to treat the underlying pathology and the fracture early, in order to achieve bone consolidation and incorporate patients into their daily lives with a favorable evolution. …”
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GDP growth as a bank loan quality determinant by Joanna Rachuba

“…Past financial crises and recessions have revealed the importance of the economy’s condition for the loan quality. …”
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Diagnosis of GM-1 gangliodosis in Cuba by Caridad Menéndez Saínz, Sergio González García, Claudina Zaldívar Muñoz, Alina González-Quevedo Monteagudo

“…It has a hereditary autosomic-recessive pattern. <strong>Objective:</strong> To determine of β-galactosidase acid activity in patients with suspicion of GM-1 gangliosidosis. …”
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Genetic Hearing Loss and Gene Therapy by Nathanial T Carpena, Min Young Lee

“…Genetic hearing loss crosses almost all the categories of hearing loss which includes the following: conductive, sensory, and neural; syndromic and nonsyndromic; congenital, progressive, and adult onset; high-frequency, low-frequency, or mixed frequency; mild or profound; and recessive, dominant, or sex-linked. Genes play a role in almost half of all cases of hearing loss but effective treatment options are very limited. …”
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