Results 131 to 140 of about 6,062,135 (332)

Medical genetics [PDF]

Postgraduate Medical Journal, 1991
openaire   +3 more sources

De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder

, 2019
POU3F3, also referred to as Brain-1, is a well-known transcription factor involved in the development of the central nervous system, but it has not previously been associated with a neurodevelopmental disorder.
Au, C., Baker, S., Bergstrom, K., Bodek, S., Brunner, H., Cunniff, C., Dentici, M., Derizioti, P., Faivre, L., Firth, H., Fisher, S., Gilissen, C., Iglesias, A., Izumi, K., Kleefstra, T., Kroes, H., Lachmeijer, A., Leonard, J., Maas, S., Matsumoto, N., Miyake, N., Niceta, M., Okamoto, N., Pfundt, R., Philippe, C., Powis, Z., Shinde, D., Snijders Blok, L., Tang, S., Tartaglia, M., Tayoun, A., Tomkins, S., Van Gassen, K., Venselaar, H., Vitobello, A., Wiel, L., Wojcik, M., Õunap, K.   +37 more
core   +1 more source

Transferrin receptor 1‐mediated iron uptake supports thermogenic activation in human cervical‐derived adipocytes

FEBS Letters, EarlyView.
In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai, Mizuki Seo, Gyath Karadsheh, Fachrur Rizal Mahendra, Máté Á Demény, Ferenc Győry, János András Mótyán, László Fésüs, Endre Kristóf, Rini Arianti   +9 more
wiley   +1 more source

Tau acetylation at K331 has limited impact on tau pathology in vivo

FEBS Letters, EarlyView.
We mapped tau post‐translational modifications in humanized MAPT knock‐in mice and in amyloid‐bearing double knock‐in mice. Acetylation within the repeat domain, particularly around K331, showed modest increases under amyloid pathology. To test functional relevance, we generated MAPTK331Q knock‐in mice.
Shoko Hashimoto, Yukio Matsuba, Mika Takahashi, Takaomi C. Saido   +3 more
wiley   +1 more source

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

FEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source

History of medical genetics in South Africa

Journal of the Colleges of Medicine of South Africa
No abstract available.
Jennifer G. Kromberg, Grietje de Jong
doaj   +1 more source

Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2021
E. Spector, Andrea Behlmann, K. Kronquist, N. Rose, E. Lyon, H. Reddi   +5 more
semanticscholar   +1 more source

Valosin‐containing protein counteracts ATP‐driven dissolution of FUS condensates through its ATPase activity in vitro

FEBS Letters, EarlyView.
Biomolecular condensates formed by fused in sarcoma (FUS) are dissolved by high ATP concentrations yet persist in cells. Using a reconstituted system, we demonstrate that valosin‐containing protein (VCP), an AAA+ ATPase, counteracts ATP‐driven dissolution of FUS condensates through its D2 ATPase activity.
Hitomi Kimura, Shin‐ichi Tate, Kyota Yasuda   +2 more
wiley   +1 more source

How Can We Move Clinical Genomics Beyond the Hype? [PDF]

, 2011
Examines the debate over increased use of genetic testing, due in part to lax regulation, and its consequences: wasteful spending, patient harm, and health system challenges.
Michael L. Millenson
core  

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source