Results 81 to 90 of about 4,156 (218)

Expanded carrier screening for inherited genetic disease using exome and genome sequencing

Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.
Abstract The goal of this study was to assess the feasibility of using exome (ES) and genome sequencing (GS) in guiding preconception genetic screening (PCGS) for couples who are planning to conceive by creating a workflow for identifying risk alleles for autosomal recessive (AR) and X‐linked (XL) disorders without the constraints of a predetermined ...
N. Belnap, K. Ramsey, A. Abraham, A. Ryan, S. Rangasamy, A. Bonfitto, M. Naymik, M. Huentelman, S. Strom, D. Perry, A. Subramaniam, W. W. Grody, S. Szelinger, V. Narayanan   +13 more
wiley   +1 more source

Differential Gene Expression Profiling of Orbital Adipose Tissue in Thyroid Orbitopathy [PDF]

, 2015
Published under a Creative Commons Attribution-NonCommercial-NoDerivatives License (http://creativecommons.org/licenses/by-nc-nd/4.0/legalcode)PURPOSE. We aimed to determine differentially expressed genes relevant to orbital inflammation and orbital fat
Burdon, Kathryn Penelope, Craig, Jamie E, Ebeling, Peter R, Hardy, Thomas G, Jung, Chol-Hee, Khong, Jwu Jin, Llamas, Bastien, McNab, Alan A, Selva, Dinesh, Sharma, Shiwani, Smyth, Gordon K, Wang, Lynn Yuning   +11 more
core   +1 more source

Domain‐Shuffling in the Evolution of Cyclostomes and Gnathostomes

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, Volume 344, Issue 2, Page 59-79, March 2025.
We addressed the potential roles of domain‐shuffling origin genes (DSO‐Gs) in the evolution of early vertebrates. Through comparative genome analysis of 22 metazoans, including four cyclostomes, we identified DSO‐Gs before and after the divergence of cyclostomes and gnathostomes, and suggest domain shuffling as a key mechanism in vertebrate early ...
Hirofumi Kariyayama, Takeshi Kawashima, Hiroshi Wada, Haruka Ozaki   +3 more
wiley   +1 more source

Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report [PDF]

, 2017
Background We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD).
Allegrini, D., Autelitano, A., Damante, G., Maver, A., Montanari, C., Montesano, G., Paci, S., Pece, A., Penco, S., Peterlin, B., Rossetti, L. M.   +10 more
core   +2 more sources

Molecular and mechanical mechanisms of animal cell abscission

FEBS Letters, Volume 599, Issue 3, Page 297-298, February 2025.
Cytokinesis leads to the distribution of segregated chromosomes, membrane, and cytoplasmic material in the two daughter cells, and ultimately concludes with abscission, their physical separation. In this Graphical Review, we outline the key events that lead to abscission and discuss mechanisms of delayed abscisison.
Amber Öztop, Agathe Chaigne
wiley   +1 more source

OCRL controls trafficking through early endosomes via PtdIns4,5P2‐dependent regulation of endosomal actin

The EMBO Journal, 2011
Mutations in the phosphatidylinositol 4,5-bisphosphate (PtdIns4,5P2) 5-phosphatase OCRL cause Lowe syndrome, which is characterised by congenital cataracts, central hypotonia, and renal proximal tubular dysfunction. Previous studies have shown that OCRL interacts with components of the endosomal machinery; however, its role in endocytosis, and thus the
Vicinanza, Mariella, Di Campli, Antonella, Polishchuk, Elena, Santoro, Michele, Di Tullio, Giuseppe, Godi, Anna, Levtchenko, Elena, De Leo, Maria Giovanna, Polishchuk, Roman, Sandoval, Lisette, Marzolo, Maria Paz, DE MATTEIS, Maria Antonietta   +11 more
openaire   +10 more sources

Proteomic analysis across aged tissues reveals distinct signatures and the crucial involvement of midgut barrier function in the regulation of aging

Aging Cell, Volume 24, Issue 1, January 2025.
Proteomic analysis reveals that instead of specific proteins, different tissues exhibit common dysregulated functional networks. Specifically, the integrity of the midgut barrier function is compromised during aging, which can be restored through the downregulation of the insulin receptor (InR).
Congying Zhang, Jinlong Wang, Tianzhao Yao, Jiaxin Hu, Feifei Sun, Chunlu Feng, Zhendong Sun, Yuzhuo Shao, Zhu Wang, Jiarui Wu, Yunpeng Huang   +10 more
wiley   +1 more source

Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1 [PDF]

Proceedings of the National Academy of Sciences, 2010
Mutations of the inositol 5′ phosphatase oculocerebrorenal syndrome of Lowe (OCRL) give rise to the congenital X-linked disorders oculocerebrorenal syndrome of Lowe and Dent disease, two conditions giving rise to abnormal kidney proximal tubule reabsorption, and additional nervous system and ocular defects in the case of Lowe syndrome.
Swan, Laura, E., Tomasini, Livia, Pirruccello, Michelle, Lunardi, Joël, de Camilli, Pietro   +4 more
openaire   +4 more sources

Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis [PDF]

, 2016
Nephrocalcinosis describes the ectopic deposition of calcium salts in the kidney parenchyma. Nephrocalcinosis can result from a number of acquired causes, but also an even greater number of genetic diseases, predominantly renal, but also extra-renal ...
Ben Oliveira, Detlef Bockenhauer, Ekengren K, Em W, Gonlusen G, Hou J, Hufnagle KG, Ichiyama A, Lenarduzzi G, LiPuma J, Nishiyama S, Pahari A, Robert Kleta, Stephen B. Walsh, Wrong O, Wrong OM, Wrong OM, Wrong OM   +17 more
core   +1 more source

Effects of Body Weight, Temperature, and Daily Time Periods on Oxygen Consumption Rate of Juvenile Silver Pomfret (Pampus argenteus)

Aquaculture Research, Volume 2025, Issue 1, 2025.
Oxygen consumption rate (OCR), which reflects the metabolism requirement of fish, is regulated by body weight and temperature. However, the priority of body weight and temperature in determining the OCR of fish is not clear. The optimal temperature and feeding time for the commercially important silver pomfret (Pampus argenteus) in China were evaluated
Yu Liu, Minhai Liu, Jieyi Chen, Daning Jiang, Jingjie Hu, Zhihua Lin   +5 more
wiley   +1 more source