Results 41 to 50 of about 1,664,726 (300)

Microbiome‐blood–brain barrier interactions in aging — mechanisms and therapeutic potential

FEBS Letters, EarlyView.
Aging reshapes the gut microbiome (↓SCFA‐producing commensals; ↑pro‐inflammatory outputs), shifting circulating metabolites (↓SCFAs; ↑LPS, ↑TMAO, ↑PAA) that act at the BBB to increase nonspecific transcytosis, alter transport, and promote astrocyte reactivity, heightening brain vulnerability.
Daniel Cuervo‐Zanatta, Hari Baskar Balasubramanian, Amir Pasokh, Marietta Zille   +3 more
wiley   +1 more source

Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature

Molecular Cytogenetics, 2018
Background A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual.
Bagas A. Marsudi, Hannie Kartapradja, Chrysantine Paramayuda, Jose R. L. Batubara, Alida R. Harahap, Nanis S. Marzuki   +5 more
doaj   +1 more source

Genetic disorders and male infertility

Reproductive Medicine and Biology, 2020
Background At present, one out of six couples is infertile, and in 50% of cases, infertility is attributed to male infertility factors. Genetic abnormalities are found in 10%‐20% of patients showing severe spermatogenesis disorders, including non ...
Shinnosuke Kuroda, Kimitsugu Usui, Hiroyuki Sanjo, Teppei Takeshima, Takashi Kawahara, Hiroji Uemura, Yasushi Yumura   +6 more
doaj   +1 more source

Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience

BMC Research Notes, 2020
Objective Non invasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) has been widely accepted in recent years to detect common fetal autosomal chromosome aneuploidies and sex chromosome aneuploidies (SCAs).
Katia Margiotti, Anthony Cesta, Claudio Dello Russo, Antonella Cima, Maria Antonietta Barone, Antonella Viola, Davide Sparacino, Alvaro Mesoraca, Claudio Giorlandino   +8 more
doaj   +1 more source

A specific insertion of a solo-LTR characterizes the Y chromosome of Bryonia dioica (Cucurbitaceae) [PDF]

, 2010
Background: Relatively few species of flowering plants are dioecious and even fewer are known to have sex chromosomes. Current theory posits that homomorphic sex chromosomes, such as found in Bryonia dioica (Cucurbitaceae), offer insight into the early ...
Silber, Martina V., Renner Susanne S, Ryan K Oyama, Oyama Ryan K, Susanne S Renner, Renner, Susanne S., Oyama, Ryan K., Silber Martina V, Martina V Silber   +8 more
core   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

Double aneuploidy 48,ХХХ,+21 of a Bulgarian newborn with Down phenotype: a case report

Egyptian Journal of Medical Human Genetics, 2020
Background Aneuploidy is one of the most important chromosomal aberrations, which involves an abnormal number of the chromosomes. Trisomy 21 (Down syndrome) and numerical aberrations of the sex chromosomes have a relatively high prevalence in the general
Mariya Tsvetkova, Mariya Levkova, Snezhinka Tsvetkova, Mari Hachmeriyan, Emil Kovachev, Lyudmila Angelova   +5 more
doaj   +1 more source

Evolutionary strata on the X chromosomes of the dioecious plant Silene latifolia: Evidence from new sex-linked genes [PDF]

, 2007
Despite its recent evolutionary origin, the sex chromosome system of the plant Silene latifolia shows signs of progressive suppression of recombination having created evolutionary strata of different X-Y divergence on sex chromosomes. However, even after
Bergero, Roberta, Forrest, Alan, Kamau, Esther, Charlesworth, Deborah   +3 more
core   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation

The Application of Clinical Genetics, 2022
Magdalena Pasińska,1 Ewelina Łazarczyk,1 Anna Repczyńska,1 Agnieszka Sobczyńska-Tomaszewska,2 Janusz Zimowski,3 Agata Runge,1 Olga Haus1 1Department of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz ...
Pasińska M, Łazarczyk E, Repczyńska A, Sobczyńska-Tomaszewska A, Zimowski J, Runge A, Haus O   +6 more
doaj