Results 111 to 120 of about 114,005 (286)

PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism. [PDF]

, 2006
We analyzed the PINK1 gene in 58 patients with early-onset Parkinsonism and detected the homozygous mutation W437X in 1 patient. The clinical phenotype was characterized by early onset (22 years of age), good re- sponse to levodopa, early fluctuations ...
CRISCUOLO C, DALLAPICCOLA B, DE MICHELE, GIUSEPPE, DE ROSA, ANNA, FILLA, ALESSANDRO, MANCINI P, MARONGIU R, SALVATORE, ELENA, VALENTE EM, VARRONE A, VOLPE G   +10 more
core  

Pathological classification of Fuchs endothelial corneal dystrophy into several types and their relationships with CTG18.1 expansion repeats

The Journal of Pathology, EarlyView.
Abstract Late‐onset Fuchs endothelial corneal dystrophy (FECD) is the most common primary disease of the corneal endothelium and the leading indication for corneal transplantation in Western countries. It is characterized by progressive accumulation, over two to three decades, of extracellular matrix (ECM) components in Descemet's membrane (DM ...
Hanielle Vaitinadapoulé, Daria Onitiu, Corantin Maurin, Gauthier Travers, Emmanuel Crouzet, Oliver Dorado‐Cortez, Sylvain Poinard, Zhiguo He, Fabien Forest, Edouard Ollier, Renaud Touraine, Philippe Gain, Jean‐Marc Perone, Gilles Thuret, the French Fuchs Study Group (FFSG), Diane Bernheim, Christophe Chiquet, Vincent Borderie, Tristan Bourcier, Jean‐Louis Bourges, Frédéric Chiambaretta, Béatrice Cochener, Louis Arnould, Florian Baudin, Catherine Creuzot, Vincent Daien, Alexandre Denoyer, Bernard Duchesne, Nicolas Duquesne, Pierre Fournie, Anne‐Sophie Gauthier, Philippe Gain, Gilles Thuret, Louis Hoffart, François Majo, Marc Muraine, Romain Mouchel, Jean Marc Perone, Jean Claude Quintyn, Alexandra Rabot, Alain Saad, Damien Gatinel, Pierre‐Yves Santiago, Jean‐Michel Bosc, David Touboul, Bertrand Vabres   +45 more
wiley   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

The influence of rare KLF1 gene mutations on fetal hemoglobin levels and their association with thalassemia

Guangxi Yike Daxue xuebao
Objective To study the influence of KLF1 gene mutations on fetal hemoglobin (Hb F) levels and their effects on thalassemia. Methods Cases undergoing thalassemia screening at the First Affiliated Hospital of Guangxi Medical University from March 2023 to ...
Zixuan CHAI, Hengying ZHU, Xuan XIAO, Ping CHEN   +3 more
doaj   +1 more source

Identification of a mutation in the para-sodium channel gene of the cattle tick Rhipicephalus (Boophilus) microplus associated with resistance to synthetic pyrethroid acaricides [PDF]

, 2009
Resistance against synthetic pyrethroid (SP) products for the control of cattle ticks in Australia was detected in the field in 1984, within a very short time of commercial introduction.
Corley, S.W., Jackson, L.A., Jonsson, N.N., Lew-Tabor, A.E., Moolhuijzen, P.M., Morgan, J.A.T.   +5 more
core   +1 more source

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review

Prenatal Diagnosis, EarlyView.
ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim, Alexander Gibbs, Elizabeth Scotchman, Graeme Smith, Lyn S. Chitty, Natalie J. Chandler   +5 more
wiley   +1 more source

Does MHC heterozygosity influence microbiota form and function?

PLoS ONE, 2019
MHC molecules are essential for the adaptive immune response, and they are the most polymorphic genetic loci in vertebrates. Extreme genetic variation at these loci is paradoxical given their central importance to host health.
M A Wadud Khan, W Zac Stephens, Ahmed Dawood Mohammed, June Louise Round, Jason Lee Kubinak   +4 more
doaj   +1 more source

Reduction in Synaptic Vesicle Protein Abundance but Increased Amounts of Nsg2 and Lpcat1 in Cerebral Cortices Without the Endosomal SNARE Proteins Vti1a and Vti1b

PROTEOMICS, EarlyView.
ABSTRACT Absence of the endosomal SNAREs vti1a and vti1b results in perinatal death and severe neuronal phenotypes in mice, while lack of one of these proteins results in minor phenotypes. Proteomic differences were investigated to obtain a deeper insight into processes in which vti1a and vti1b are involved.
Julia Gottschalk, Katharina Kotschnew, Julia Hahn, Thomas Patschkowski, Gabriele von Fischer von Mollard   +4 more
wiley   +1 more source

A novel spectral method for inferring general diploid selection from time series genetic data

, 2014
The increased availability of time series genetic variation data from experimental evolution studies and ancient DNA samples has created new opportunities to identify genomic regions under selective pressure and to estimate their associated fitness ...
Bhaskar, Anand, Song, Yun S., Steinrücken, Matthias   +2 more
core   +1 more source

Speciation with gene flow

PLANTS, PEOPLE, PLANET, EarlyView.
Biodiversity is threatened by human activities, with extinction debt accumulating rapidly. Many of these activities change the connectivity of populations, fragmenting existing population systems or bringing previously isolated populations or species into contact.
Zhiqin Long, Xu Zhang, Yue Yu, Gregory L. Owens, Diana J. Rennison, Clarisse Palma‐Silva, Daniel Ortiz‐Barrientos, Loren H. Rieseberg   +7 more
wiley   +1 more source