Xeroderma Pigmentosum: Man Deprived of His Right to Light by Subhash Mareddy, Jithendra Reddy, Subhas Babu, Preethi Balan

“…Xeroderma pigmentosum (XP) is a hereditary autosomal recessive disorder characterized by photo hypersensitivity of sun exposed tissues and subsequent several-fold increased risk for malignant changes resulting from impaired ability to repair UV-induced DNA damage. …”
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Y-Function Analysis of the Low Temperature Behavior of Ultrathin Film FD SOI MOSFETs by A. Karsenty, A. Chelly

“…The respective transfer characteristics of the ultrathin body (UTB) and gate recessed channel (GRC) device, sharing same W/L ratio but having a channel thickness of 46 nm, and 2.2 nm respectively, were measured at 300 K and at 77 K. …”
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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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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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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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A System for Robotic Extraction of Fasteners by Austin Clark, Musa K. Jouaneh

“…This study develops a system for extracting cross-recessed screws using a Deep Convolutional Neural Network (DCNN) for screw detection, integrated with industrial robot simulation software. …”
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"[T]hings among the ruins" : les choses contre le roc dans The Song of the Lark et The Professor’s House de Willa Cather by Céline Manresa

“…The radiating presence of sculpted jars, instruments and jewels set in the recesses of the rock reveals the possibility of a gentle insertion of man’s hand in nature. …”
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