Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.
American Society of Nephrology. Clinical Journal, 2016 BACKGROUND AND OBJECTIVES Alport syndrome comprises a group of inherited heterogeneous disorders involving CKD, hearing loss, and ocular abnormalities.
Naohiro Kamiyoshi +16 more
semanticscholar +1 more source
Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign. [PDF]
, 2013 BackgroundMany genes have been reported as harboring autosomal dominant mutations causing retinal dystrophy. As newly available gene panel sequencing and whole exome sequencing will open these genes up to greater scrutiny, we assess the rate of rare ...
Gorin, Michael B, Strom, Samuel P
core +2 more sources
BMC Bioinformatics, 2008 Background The Signal-to-Noise-Ratio (SNR) is often used for identification of biomarkers for two-class problems and no formal and useful generalization of SNR is available for multiclass problems.
Chung I-Fang +4 more
doaj +1 more source
Greenhouse screening for Fusarium wilt resistance in lupine [PDF]
, 2002 Fusarium wilt can cause total crop failure. Evaluation of Ffusarium resistance in heavily infected soil were performed in a grenhouse where the dominant fusarium species in the soil in descending order was F. oxysporum then F. avenaceum, F.
Christiansen, J.L. +3 more
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Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta [PDF]
, 2019 Osteogenesis imperfecta (OI) is a heritable connective tissue disorder, mainly characterized by bone fragility and low bone mass. Defects in the type I procollagen-encoding genes account for the majority of OI, but increasingly more rare autosomal ...
Elcioglu, Nursel +8 more
core +1 more source
Genes & Development, 2002 Covalent modification of histone tails is crucial for transcriptional regulation, mitotic chromosomal condensation, and heterochromatin formation.
M. Tachibana +10 more
semanticscholar +1 more source
Characterising resistance to Turnip mosaic virus (TuMV) in Turnip (Brassica rapa rapa) [PDF]
, 2008 A Brassica rapa rapa L. line has been identified with high resistance to seven isolates of Turnip mosaic virus (TuMV) (including UK 1, CHN 5, CZE 1, CDN 1, GBR 6, POL 1 and UK 4) representing the major pathotypes of the virus.
Haj Kassem, Amin A., Walsh, John A.
core
Codon usage suggests that translational selection has a major impact on protein expression in trypanosomatids. [PDF]
, 2008 BACKGROUND: Different proteins are required in widely different quantities to build a living cell. In most organisms, transcription control makes a major contribution to differential expression.
Horn, David
core +2 more sources
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.
Brain : a journal of neurology, 2015 Cerebral small vessel disease represents a heterogeneous group of disorders leading to stroke and cognitive impairment. While most small vessel diseases appear sporadic and related to age and hypertension, several early-onset monogenic forms have also ...
E. Verdura +16 more
semanticscholar +1 more source
Nasal Bacterial Microbiome: Probing a Healthy Porcine Family [PDF]
, 2011 Upper respiratory tract (URT) infection caused the leading and devastating diseases in pigs. It was believed that the normal microbiome of URT plays a vital role in health and disease development.
Huanchun Chen, Min Yue, Weicheng Bei
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