Results 161 to 170 of about 616,821 (255)

Molecular Genetic Analysis and Prenatal Diagnosis of a Family With MECP2 Duplication Syndrome

Journal of Clinical Laboratory Analysis, EarlyView.
Combined low‐pass CNV‐seq and MLPA identified an inherited Xq28 duplication encompassing MECP2 in a 15‐week male fetus and his affected older brother, transmitted from an asymptomatic mother. This integrated strategy enabled accurate pedigree analysis and prenatal diagnosis of MECP2 duplication syndrome, supporting genetic counseling and reproductive ...
FengQiu Lin, DingGuo Chen, ZhengLin Lu, Yu Huang, ChunFang Wang, JuHua Liang, XueJuan Nong, ZhengYi Chang, FuBo Wei, GuiDan Xu   +9 more
wiley   +1 more source

Prefoldin function links meiotic chromosome segregation with cellular remodeling and reveals tubulin sensitivity of the meiotic spindle. [PDF]

Sci Adv
Kuwayama N, Styler BS, Stekovic B, Sakharova H, Lareau L, Jovanovic M, Ünal E, Brar GA.   +7 more
europepmc   +1 more source

Phenotypic and Genotypic Analysis of Two Rare Cases of ‐‐SEA/‐α4.3 HbH Disease

Journal of Clinical Laboratory Analysis, EarlyView.
We report two unrelated adult patients with rare deletional HbH disease (genotype ‐‐SEA/‐α4.3). This novel 4.3 kb deletion covering the HBA1 gene is accompanied by X‐Y‐Z segment recombination, which was identified by CycloneSEQ long‐read nanopore sequencing.
Weijia Yang, Xiaoyan Huang, Li Zhang, Xiaoqin Yang, Yaya Guo, Qingping Kang, Min Dou, Guijun Huang   +7 more
wiley   +1 more source

Interplay between cohesin and TORC1 links chromosome segregation and gene expression to environmental changes. [PDF]

Elife
Besson D, Vaur S, Vazquez S, Tournier S, Gachet Y, Birot A, Claverol S, Marston AL, Damdimopoulos A, Ekwall K, Javerzat JP.   +10 more
europepmc   +1 more source

Calpain Proteases and the Evolving Signaling Network in Insect Embryonic Patterning

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
Insect embryonic Dorsal‐Ventral (DV) patterning relies on the BMP and Toll pathways to different extents. Calcium‐dependent cystein proteases of the Calpain family also exert an important function to pattern the DV axis. In Drosophila, Calpain A cleaves the Cactus/IkappaB inhibitor and modifies Toll signals in ventral regions of the embryo. In Rhodnius
Alison Julio, Helena Araujo
wiley   +1 more source

Chromosome segregation synchrony in S. pombe is noise limited and arises without positive feedback. [PDF]

J Cell Biol
Williams W, Phan K, Chen J, Legewie S, Kamenz J, Hauf S.   +5 more
europepmc   +1 more source

The genetic landscape of congenital diarrheas and very early onset inflammatory bowel disease in the Middle East

JPGN Reports, EarlyView.
Abstract Objectives Monogenic causes of congenital diarrheas and enteropathies (CoDE) and very early onset inflammatory bowel disease (VEOIBD) are mostly recessive and therefore more prevalent in populations with increased consanguinity rates. To assess the genetic basis of these disorders in a likely high‐prevalence population, we established a multi ...
Lily Gillette, Muna Al Safar, Ganeshwaran H. Mochida, Casey Johnson, Stephen Babcock, Klaus Schmitz‐Abe, Michael Field, Jessica Yang, Richelle Bearup, Ahmed Megahed, Mohammed Ezz El Regal Abbas, Tarek Baraket, Sherine Elziny, Ali Sobh, Gulin Eren, Fawaz AlRefaee, Rana Bitar, Mohamed Miqdady, Pankaj B. Agrawal, Scott B. Snapper, Jay R. Thiagarajah, Jodie Ouahed   +21 more
wiley   +1 more source

Microtubules guide Aurora B substrate geometries for accurate chromosome segregation. [PDF]

Sci Adv
Niu Y, DeLuca KF, Owen RH, Konishi HA, Gong R, Alushin GM, DeLuca JG, Funabiki H.   +7 more
europepmc   +1 more source

Identification and quality characterization of a putative novel 17x + 8y high‐molecular‐weight glutenin subunit recombination in bread wheat

Journal of the Science of Food and Agriculture, EarlyView.
Abstract BACKGROUND High‐molecular‐weight glutenin subunits (HMW‐GSs) are major determinants of dough rheological behavior and bread‐making quality in bread wheat (Triticum aestivum L.). Among wheat genomes, the Glu‐B1 locus exhibits the highest allelic diversity; however, recombination events between x‐ and y‐type HMW‐GS genes are considered extremely
Nevzat Aydin, Bedrettin Demir, Mehmet Koyuncu, Jan Bocianowski, Aras Türkoğlu   +4 more
wiley   +1 more source

Dynamic crotonylation of Bub3 regulates mitotic checkpoint silencing and chromosome segregation. [PDF]

J Mol Cell Biol
Shi X, Yu X, Wang W, Xiong F, Yuan X, Hu Q, Song X, Dou Z, Yao X, Zhang L.   +9 more
europepmc   +1 more source