Results 81 to 90 of about 132,731 (277)

A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia

Cellular & Molecular Biology Letters, 2019
Purpose Ectodermal dysplasias are characterized by developmental abnormalities in ectodermal structures. Hypohidrotic ectodermal dysplasias (HED) are the most common subtype. They are most commonly inherited via X-linked recessive routes.
Marzieh Rahbaran, Maryam Hassani Doabsari, Simindokht Salavitabar, Neda Mokhberian, Ziba Morovvati, Saeid Morovvati   +5 more
doaj   +1 more source

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis. [PDF]

PLoS ONE, 2017
Mutations in NR5A1 have been reported as a frequent cause of 46,XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from infertility, ambiguous genitalia, anorchia to gonadal dygenesis and female genitalia.
Ralf Werner, Isabel Mönig, Ralf Lünstedt, Lutz Wünsch, Christoph Thorns, Benedikt Reiz, Alexandra Krause, Karl Otfried Schwab, Gerhard Binder, Paul-Martin Holterhus, Olaf Hiort   +10 more
doaj   +1 more source

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]

, 2018
Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth, Menten, Björn, Roels, Frank, Roeyers, Herbert, Smet, Joél, Stepman, Hedwig, Van Coster, Rudy, Vanlander, Arnaud, Vantroys, Elise, Vergult, Sarah   +9 more
core   +1 more source

An Open‐Source Pipeline for Calcium Imaging and All‐Optical Physiology in Human Stem Cell‐Derived Neurons

Advanced Science, EarlyView.
This work introduces an open‐source all‐optical platform for functional phenotyping of human stem cell‐derived neurons. The system integrates optogenetics, calcium imaging, automated acquisition, and analysis to resolve single‐cell and network activity, enabling longitudinal measurements, disease modeling, and pharmacological screening in preclinical ...
Wardiya Afshar‐Saber, Federico M. Gasparoli, Ziqin Yang, Nicole A. Teaney, Rachel Hobson, Lahin Lalani, Gayathri Srinivasan, Dosh Whye, Ranit Karmakar, Elizabeth D. Buttermore, Kellen D. Winden, Cidi Chen, Mustafa Sahin   +12 more
wiley   +1 more source

Analysis on clinical phenotype and gene mutation of three cases of dysferlinopathy in two families

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To investigate clinical phenotype and gene mutation of dysferlinopathy. Methods The clinical manifestations, laboratory, imaging, neurophysiological examinations, myopathology and genetic test of 3 patients with dysferlinopathy in 2 Chinese ...
Hui-li ZHANG, Ze LI, Qiu-sheng CHENG, Xi CHEN, Yu-ling ZHU, Ya-qin LI, Meng-long CHEN, Cheng ZHANG   +7 more
doaj   +1 more source

Genotoxicity assessment of piperitenone oxide: an in vitro and in silico evaluation [PDF]

, 2017
Piperitenone oxide, a natural flavouring agent also known as rotundifolone, has been studied for the genotoxicity assessment by an integrated in vitro and in silico experimental approach, including the bacterial reverse mutation assay, the micronucleus ...
Abete, Lorena, Barile, Fabio, Bozovic, Mijat, DI GIACOMO, Silvia, DI SOTTO, Antonella, Izzo, Angelo A, Mazzanti, Gabriela, Parisi, Olga A, Ragno, Rino, Vitalone, Annabella   +9 more
core   +1 more source

Natural Negative Feedback Loops Confer Indica‐Japonica Differentiation for Grain Size Homeostasis in Rice

Advanced Science, EarlyView.
This study reveals the genetic and molecular mechanisms controlling grain size homeostasis through fine‐tuning OsGRX8 self‐expression by two natural negative feedback loops functioning in redox‐dependent or ‐independent manners and identifies two self‐regulatory haplotypes (SRHs) for the subspecies differentiation in rice.
Xingxing Li, Meng‐en Wu, Ziqi Qiao, Junkui Huang, Juncheng Zhang, Yang Ding, Junqing Zhu, Jingyue Xu, Yuxin Huang, Wei Li, Xiaomin Su, Yue Ding, Jianwei Zhang, Yibo Li   +13 more
wiley   +1 more source

Development of a uniform, very aggressive disease phenotype in all homozygous carriers of the NOD2 mutation p.Leu1007fsX1008 with Crohn's disease and active smoking status resulting in ileal stenosis requiring surgery.

PLoS ONE, 2020
BackgroundNOD2 variants are the strongest genetic predictors for susceptibility to Crohn's disease (CD). However, the clinical value of NOD2 on an individual patient level remains controversial.
Fabian Schnitzler, Matthias Friedrich, Marianne Angelberger, Julia Diegelmann, Johannes Stallhofer, Christiane Wolf, Joel Dütschler, Samuel Truniger, Torsten Olszak, Florian Beigel, Cornelia Tillack, Peter Lohse, Stephan Brand   +12 more
doaj   +1 more source

Identification and interpretation of TET2 noncanonical splicing site intronic variants in myeloid neoplasm patients

eJHaem, 2023
Background: DNA hypermethylation and instability due to inactivation mutations in Ten–eleven translocation 2 (TET2) is a key biomarker of hematological malignancies. This study aims at characterizing two intronic noncanonical splice‐site variants, c.3954+
Riku Das, Zheng Jin Tu, David S. Bosler, Yu‐Wei Cheng   +3 more
doaj   +1 more source

Partial rescue of human carbonic anhydrase II frameshift mutation by ribosomal frameshift. [PDF]

Proceedings of the National Academy of Sciences, 1995
A single-base-pair deletion in exon 7 of the human carbonic anhydrase II gene was found to be the molecular defect in a group of independently ascertained, clinically heterogeneous, Hispanic carbonic anhydrase II-deficient patients, all of whom had ancestors from the Caribbean islands.
P Y, Hu, A, Waheed, W S, Sly
openaire   +2 more sources