Results 71 to 80 of about 282,756 (243)

The ageing holobiont: crosstalk between telomere dynamics, oxidative stress and the gut microbiome

Biological Reviews, EarlyView.
ABSTRACT The gut tissue is at the frontline of early onset of ageing. It exhibits high cell turnover rates and rapid telomere shortening, which can have systemic effects on the developing or senescing organism. We conducted a literature review of studies on the crosstalk between telomere length dynamics, telomerase activity, oxidative stress, and gut ...
Michael L. Pepke, Søren B. Hansen, Morten T. Limborg   +2 more
wiley   +1 more source

A rare cause of nephrotic syndrome

Saudi Journal of Kidney Diseases and Transplantation, 2020
Classical Alport syndrome is a rare X-linked disease of males (85%) presenting early with hematuria, ocular, and hearing defects. Proteinuria and renal failure are less common in the early stages. Here, we report the case of a young female with nephrotic
Remi George Thomas, R P Senthilkumar, Balaraman Velayudham, C Vasudevan, Thirumalvalavan Murugesan   +4 more
doaj   +1 more source

Prenatal diagnosis of recurrent mosaic ring chromosome 13 of maternal origin

Taiwanese Journal of Obstetrics & Gynecology, 2021
Objective: We present prenatal diagnosis of recurrent mosaic ring chromosome 13 [r(13)] of maternal origin. Case Report: A 27-year-old woman underwent amniocentesis at 17 weeks of gestation because of a past history of fetal abnormality caused by mosaic ...
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Shin-Wen Chen, Fang-Tzu Wu, Wen-Lin Chen, Meng-Shan Lee, Wayseen Wang   +7 more
doaj   +1 more source

The β integrin modulates serotonin sensitivity via NPxY motifs to regulate egg laying and mechanosensation behaviors in Caenorhabditis elegans

Developmental Dynamics, EarlyView.
Abstract Background Integrin is an αβ heterodimeric receptor to the extracellular matrix; its binding to the matrix recruits focal adhesions to two NPxY motifs, the tyrosine phosphorylation sites in the cytoplasmic domain. Studies found that replacing tyrosines (Y) with phenylalanines (F) in the motif of β1 integrin displayed little developmental or ...
Josh Haram Bumm, Daniel Dogeon Lee, Zhongqiang Qiu, Angela Haeun Choi, Meghana Kolluri, Michael J. Olsen, Lianzijun Wang, Myeongwoo Lee   +7 more
wiley   +1 more source

Turner Syndrome: Update the Paradigm of Diagnosis, Clinical Care and Consequences of Y cell lines [PDF]

International Journal of Anatomy Radiology and Surgery, 2014
Turner’s syndrome (TS) is a common chromosomal aneuploidy, present in humans with an incidence rate of 1:2500 of the new-born infants with phenotypic females.
S Iqbal
doaj   +1 more source

Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects [PDF]

, 2011
Background Genomic imbalances of the 12q telomere are rare; only a few patients having 12q24.31-q24.33 deletions were reported. Interestingly none of these were mosaic.
Jawaher Al-Zahrani, Naji Al-Dosari, Nada AbuDheim, Tarfa A Alshidi, Dilek Colak, Ola Al-Habit, Ali Al-Odaib, Nadia Sakati, Brian Meyer, Pinar T Ozand, Namik Kaya   +10 more
core   +1 more source

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, Elisabeth Bosch, Xueqin Lin, Adeline Trauffler, Roseline Caumes, Andrew E. Fry, Clementine Fort, Gaelle Gauthe, Regina Trollmann, Thomas Wirth, Mathieu Anheim, Aurélie Méneret, Emmanuel Roze, Jean‐Madeleine de Sainte Agathe, Hailan He, Eleni Panagiotakaki, Gaëtan Lesca, André Reis, Diane Doummar, Thomas Smol, Georgia Vasileiou   +22 more
wiley   +1 more source

45, X/ 46, X, psu idic (Y) (q11.2) Mosaicism in a Primary Amenorrhea Girl with Swyer Syndrome

Case Reports in Genetics, 2023
The female characters with a 46, XY karyotype, historically termed Swyer syndrome, are commonly divided into complete and partial gonadal dysgenesis. The former is completely made up of the 46, XY chromosome, while the latter results from 45, X/46, XY ...
Yu Han, Jiebin Wu, Fangfang Tan, Jing Sha, Bei Zhang, Jingfang Zhai, Xuezhen Wang   +6 more
doaj   +1 more source

Gonadal dysgenesis in Turner syndrome with Y-chromosome mosaicism: Two case reports

World Journal of Clinical Cases, 2020
BACKGROUND Turner syndrome (TS) has a variety of different karyotypes, with a wide range of phenotypic features, but the specific karyotype may not always predict the phenotype.
Xuefei Leng, K. Lei, Yi Li, Fei Tian, Q. Yao, Q. Zheng, Zhi-hong Chen   +6 more
semanticscholar   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source