Pyruvate Kinase Deficiency Causing Priapism by Vinay Hanyalu Shankar, Bharadwaj Adithya-Sateesh, Nicole Gousy, Girma Ayele, Freyr Petursson, Rediet Atalay, Miriam Michael

“…Pyruvate kinase deficiency (PKD) is an autosomal recessive defect of the enzyme pyruvate kinase (PK) which is involved in catalyzing a reaction that produces ATP in the glycolytic pathway. …”
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Knock-In Mice with Myo3a Y137C Mutation Displayed Progressive Hearing Loss and Hair Cell Degeneration in the Inner Ear by Peipei Li, Zongzhuang Wen, Guangkai Zhang, Aizhen Zhang, Xiaolong Fu, Jiangang Gao

“…Myo3a is expressed in cochlear hair cells and retinal cells and is responsible for human recessive hereditary nonsyndromic deafness (DFNB30). …”
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Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in the TRPV3 gene: a case report by Jia Zhang, MengYue Guo, DongYang Yuan, JinYang Wei, Hongzhou Cui, Hongzhou Cui

“…Recently, transient receptor potential vanilloid 3 (TRPV3) mutations associated with autosomal dominant or recessive OS have been reported. Here we describe a classically OS case with definitive diagnosis of OS based on clinical features and a genetic assay. …”
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Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T by Holli M. Drendel, Jason E. Pike, Katherine Schumacher, Karen Ouyang, Jing Wang, Mary Stuy, Stephen Dlouhy, Shaochun Bai

“…Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder that leads to a defect in fatty acid oxidation. …”
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Composition of Trace Metals in Dust Samples Collected from Selected High Schools in Pretoria, South Africa by J. O. Olowoyo, L. L. Mugivhisa, Z. G. Magoloi

“…Thirty-two dust samples were collected from inside and outside the classrooms, where learners often stay during recess period. The dust samples were analysed for trace metal concentrations using Inductively Coupled Plasma-Mass Spectrometry (ICP-MS). …”
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Evidence for the Involvement of Lipid Rafts and Plasma Membrane Sphingolipid Hydrolases in Pseudomonas aeruginosa Infection of Cystic Fibrosis Bronchial Epithelial Cells by Domitilla Schiumarini, Nicoletta Loberto, Giulia Mancini, Rosaria Bassi, Paola Giussani, Elena Chiricozzi, Maura Samarani, Silvia Munari, Anna Tamanini, Giulio Cabrini, Giuseppe Lippi, Maria Cristina Dechecchi, Sandro Sonnino, Massimo Aureli

“…Cystic fibrosis (CF) is the most common autosomal genetic recessive disease caused by mutations of gene encoding for the cystic fibrosis transmembrane conductance regulator. …”
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Wilson’s Disease: Diagnosis of Wilson’s Disease in Ethiopian Young Sisters by Nebiyu Bekele, Frew Ewnetu, Tigest Hailu, Zerubabel Tegegne, Abilo Tadesse

“…Wilson’s disease is an inherited autosomal recessive disorder of copper metabolism. Clinical signs, biochemical parameters, histologic findings, and/or ATP7B genetic testing are required to diagnose Wilson’s disease. …”
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Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome by Fuminori Tanabe, Hirotake Kasai, Michiko Morimoto, Shigeharu Oh, Hidetoshi Takada, Toshiro Hara, Masahiko Ito

“…Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, recurrent bacterial infections and progressive neurological dysfunction. …”
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Immediate Patient Satisfaction with Dental Esthetics After Endodontic and Prosthodontic Treatment of Dental Dyschromia by Adrian Jantea, Sorin Gheorghe Mihali, Dan Lolos, Anca Tudor, Roxana Oancea, Liliana Porojan

“…The primary reasons for dissatisfaction included darker restoration color, chipping, and gingival recessions. <b>Conclusions:</b> Combined endodontic and prosthetic treatments, utilizing lithium disilicate and zirconium oxide restorations, achieved high levels of patient satisfaction. …”
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Computed Tomographic Tenography of Normal Equine Digital Flexor Tendon Sheath: An Ex Vivo Study by Luca Lacitignola, Pasquale De Luca, Alessandro Guarracino, Antonio Crovace

“…Computed tomographic tenography of digital flexor tendon sheaths could visualize the following main tendon structures for every forelimb in contrast-enhanced images as low densities surrounded by high densities: superficial digital flexor tendon, deep digital flexor tendon, manica flexoria, mesotendons, and synovial recess. Results of this study suggest that computed tomographic tenography can be used with accuracy and sensitivity to evaluate the common disorders of the equine digital flexor tendon sheath and the intrathecal structures.…”
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A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family by Ghazanfar Ali, Sadia Sadia, Syeda Ain-ul- Batool, Zahid Azeem, Naheed Bashir Awan, Syed Akif Raza Kazmi, Zia- Ur- Rehman, Zeeshan Anjum, Fazal- Ur- Rehman, Abdul Wali, Kafaitullah Khan, Nasib Zaman, Muhammad Ayub, Muhammad Sajid, Noor Hassan

“…EDSS1, a syndrome characterized by ectodermal dysplasia-syndactyly, is inherited in an autosomal recessive manner due to mutations in the NECTIN4/PVRL4 gene. …”
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Congenital Chloride Diarrhea: Diagnosis by Easy-Accessible Chloride Measurement in Feces by C. Gils, M.-C. Eckhardt, P. E. Nielsen, M. Nybo

“…Congenital chloride diarrhea (CCD) is an autosomal recessive disorder caused by mutations in the genes encoding the intestinal Cl−/HCO3- exchanger and is clinically characterized by watery, profound diarrhea, electrolyte disturbances, and metabolic alkalosis. …”
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The genetic control of the day- neutral habit in populations of Fragaria vesca (Rosaceae) in Western Siberia by S. O. Baturin

“…Segregation in the progeny of self-fertilized plants from this population evidences monogenic control of day neutrality with a recessive type of inheritance. Its nature is similar to that in Alpine Fragaria vesca populations.…”
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Caroli's Disease: Current Knowledge of Its Biliary Pathogenesis Obtained from an Orthologous Rat Model by Yasunori Sato, Xiang Shan Ren, Yasuni Nakanuma

“…Caroli's disease belongs to a group of hepatic fibropolycystic diseases and is a hepatic manifestation of autosomal recessive polycystic kidney disease (ARPKD). It is a congenital disorder characterized by segmental saccular dilatations of the large intrahepatic bile duct and is frequently associated with congenital hepatic fibrosis (CHF). …”
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Allelic diversity of the <i>Vrn</i> genes and the control of growth habit and earliness in wheat by S. E. Smolenskaya, N. P. Goncharov

“…The effects of mutations (polymorphisms) in the recessive vrn genes on vernalization requirement in winter wheats are considered, and this trait was formalized. …”
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Priapism in a Child from Homocystinuria from Methylenetetrahydrofolate Reductase MTHFR (C677T) Mutation by Ameer Kakaje, Ammar Fadel, Osama Hosam Aldeen, Othman Hamdan

“…Homocystinuria is a rare autosomal recessive disorder that can cause hyperhomocysteinemia and hypercoagulability. …”
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Inheritance of yellow colour in safflower (Carthamus tinctorius L.) by T. V. Leus

“…The dominant gene determining the yellow color is proposed to be designated as C for Chrome. The recessive allele of this gene permits the development of other corolla colors.…”
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Developing donors of ultra-early maturity in barley by I. A. Zveinek, O. N. Kovaleva

“…Earliness is controlled in the donors by three recessive genes. The donors’ period from emergence to heading was 7–9 days shorter than that of the reference cv. …”
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Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic Fibrosis by Hongxia Shao, Jingna Hua, Qi Wu, Xiaoge Li, Ming Zhang, Herong Wang, Junping Wu, Long Xu, Yi Xie, Li Li, Huaiyong Chen

“…Cystic fibrosis (CF) is one of the most common autosomal recessive disorders among Caucasians of Northern European descent but is uncommon in the Chinese population. …”
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Primary Hyperoxaluria Type 1 in 18 Children: Genotyping and Outcome by Mohamed S. Al Riyami, Badria Al Ghaithi, Nadia Al Hashmi, Naifain Al Kalbani

“…Primary hyperoxaluria belongs to a group of rare metabolic disorders with autosomal recessive inheritance. It results from genetic mutations of the AGXT gene, which is more common due to higher consanguinity rates in the developing countries. …”
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