Results 111 to 120 of about 6,322,056 (300)

CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History. [PDF]

Am J Ophthalmol, 2023
Daich Varela M, Georgiou M, Alswaiti Y, Kabbani J, Fujinami K, Fujinami-Yokokawa Y, Khoda S, Mahroo OA, Robson AG, Webster AR, AlTalbishi A, Michaelides M.   +11 more
europepmc   +1 more source

Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management

, 2012
Cerebral cavernous (or capillary-venous) malformations (CCM) have a prevalence of about 0.1-0.5% in the general population. Genes mutated in CCM encode proteins that modulate junction formation between vascular endothelial cells.
Maat-Kievit, JA, Duckers, Eric, Haasdijk, Remco, Cheng, Caroline   +3 more
core   +1 more source

Medical genetics in clinical practice.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1974
Two hundred and fifty-four patients were seen in the Genetic Clinics during 1973, the first full year of activity of the Department of Human Genetics, University of Cape Town. The current role of medical genetics in clinical practice is exemplified by an analysis and discussion of the problems presented by these individuals.S. Afr. Med.
Beighton, P.H., Nelson, Matilda M.
openaire   +3 more sources

Ligand‐dependent transcriptional heterogeneity in cell cycle gene expression delays G1/S entry

FEBS Letters, EarlyView.
EGF and HRG induce distinct G1/S progression programs in ErbB2‐amplified BT474 breast cancer cells. Despite activating the potent ErbB2–ErbB3 heterodimer, HRG does not accelerate cell‐cycle entry. Instead, EGF promotes earlier restriction‐point passage via ERK–FOS signaling, whereas HRG activates the AKT–MYC axis, driving transcriptional heterogeneity ...
Ririn Rahmala Febri, Ayaka Nagasato‐Ichikawa, Keita Iida, Shuhei Kimura, Akira Imamoto, Mariko Okada   +5 more
wiley   +1 more source

Treacher Collins Syndrome: Genetics, Clinical Features and Management. [PDF]

Genes (Basel), 2021
Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R.   +3 more
europepmc   +1 more source

Perspective of clinical genetics.

Journal of Nippon Medical School, 1999
Watanabe, Atushi, Migita, Makoto, Watanabe, Yuko, Shimada, Takashi   +3 more
openaire   +3 more sources

Translophagy—A potential link between autophagy impairment and translational errors

FEBS Letters, EarlyView.
Neurodegenerative diseases are characterised by the accumulation of abnormal proteins and protein aggregates, but their origin often remains unknown. We propose that selective autophagy removes damaged protein‐making machinery, preventing errors during protein synthesis.
Mykola V. Korolchuk, Gailing Ma, Robin Antrobus, Diego Manni, Marco Trevisan‐Herraz, Mustafa Khwaja, Max Brown, Gavin D. Richardson, Masaaki Komatsu, Daniel Erskine, Viktor I. Korolchuk, Tetsushi Kataura   +11 more
wiley   +1 more source

Population Genetics [PDF]

, 2006
Population genetics attempts to measure the influence of the causes of evolution, viz., mutation, migration, natural selection, and random genetic drift, by understanding the way those causes change the genetics of populations. But how does it accomplish
Millstein, Roberta L., Skipper, Robert A.   +1 more
core  

Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery. [PDF]

Family-history assessment can identify individuals above population-risk for cancer to enable targeted Screening, Prevention and Early Detection (SPED).
Elms, M, Snape, K., Forman, A., Hanson, H., Youngs, A, Short, J., Youngs, A., Kohut, K., Snape, K, Hlaing, M. T., Forman, A, Short, J, Elms, M., Hlaing, MT, Kohut, K, Hanson, H   +15 more
core   +1 more source

The potential of RNA methylation in the treatment of cardiovascular diseases

iScience
Summary: RNA methylation has emerged as a dynamic regulatory mechanism that impacts gene expression and protein synthesis. Among the known RNA methylation modifications, N6-methyladenosine (m6A), 5-methylcytosine (m5C), 3-methylcytosine (m3C), and N7 ...
Kai Wang, YuQin Wang, YingHui Li, Bo Fang, Bo Li, Wei Cheng, Kun Wang, SuMin Yang   +7 more
doaj   +1 more source