Results 221 to 230 of about 3,861,183 (367)

Unusual maintenance of X chromosome inactivation predisposes female lymphocytes for increased expression from the inactive X

Proceedings of the National Academy of Sciences of the United States of America, 2016
Jianle Wang, C. Syrett, Marianne C. Kramer, Arindam Basu, M. Atchison, M. Anguera   +5 more
semanticscholar   +1 more source

The Mechanism and Potential Therapeutic Strategies of Vascular Aging

AGING MEDICINE, EarlyView.
The phenotypes of vascular aging vary across different blood vessels. Endothelial dysfunction is observable in the endothelium of all vessels, while vascular structural remodeling primarily occurs in arteries. A decline in organ vascular density mainly affects arterioles, venules, and capillaries, whereas thrombosis predominantly occurs in the ...
Wan‐Zhou Wu, Xuan Wang, Fang‐Fang Wu, Xiao‐Tian Yan, Yong‐Ping Bai   +4 more
wiley   +1 more source

A familial case of interstitial deletion of the short arm of chromosome 6p22.3-p24.3 in twins with severe delay in psychomotor and speech development. [PDF]

Vavilovskii Zhurnal Genet Selektsii
Moskvitin GD, Kochkina DB, Gurinova MK, Fedotov DA, Bekenieva LV, Kashevarova AA, Sukhomyasova AL, Lebedev IN, Maximova NR.   +8 more
europepmc   +1 more source

Mutation analysis of SYNJ1: a possible candidate gene for chromosome 21q22-linked bipolar disorder

, 2001
Takuya Saito, Feifei Guan, Demitri F. Papolos, Stephanie Lau, Marjorie H. Klein, Cathy S.J. Fann, Herbert M. Lachman   +6 more
openalex   +1 more source

Bloom syndrome: multiple retinopathies in a chromosome breakage disorder [PDF]

, 2004
Robert B. Bhisitkul
openalex   +1 more source

Illuminating Tau Aggregates: Multiscale Approaches for Detection, Imaging, and Understanding

Aggregate, EarlyView.
This review presents recent advances in molecular imaging of tauopathies, focusing on tau aggregation mechanisms, structural polymorphism, and imaging strategies. It highlights the development of tau‐selective fluorescent probes and PET tracers and explores emerging techniques such as cryo‐EM and super‐resolution imaging, offering a multiscale ...
Kaustubh R. Bhuskute, Jiayi Fan, Amandeep Kaur   +2 more
wiley   +1 more source

Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases. [PDF]

Genet Med Open
Sivakumaran TA, Azab B, Hershman E, Sivakumaran A, Friedman NR, Raz D, Neilson D, Grebe TA.   +7 more
europepmc   +1 more source

Erratum: Findings in an independent sample support an association between bipolar affective disorder and the G72/G30 locus on chromosome 13q33 [PDF]

, 2004
Y-S Chen, Nirmala Akula, Sevilla D. Detera‐Wadleigh, Thomas G. Schulze, James Thomas, Jesse Potash, J. Raymond DePaulo, M. G. McInnis, N Cox, Francis J. McMahon   +9 more
openalex   +1 more source

Chromosome instability syndromes

Nature Reviews Disease Primers, 2018
A. Taylor, C. Rothblum-Oviatt, N. Ellis, I. Hickson, Stefan Meyer, S. Meyer, T. Crawford, A. Smogorzewska, B. Pietrucha, C. Weemaes, G. Stewart   +10 more
semanticscholar   +1 more source

Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is one of the most frequent neurodevelopmental disorders and is caused by ANKRD11 variants. Postnatal short stature is observed in ~50% of patients. Recombinant human growth hormone (rhGH) has become a valuable treatment for patients with growth hormone deficiency (GHD) along with Prader–Willi and Turner syndrome. Limited evidence
Sietse M. Aukema, Kim Vandenput, Emanuela Scarano, Himanshu Goel, Lily Guo, Michiel Vanneste, Koen Devriendt, Nitash Zwaveling‐Soonawala, Cordula Kiewert, Alma Kuechler, Ilaria Parenti, Eleonora Orlandini, Elke de Boer, Siddharth Banka, Elizabeth Wall, Gholson J. Lyon, Karen J. Low, Joyce M. Geelen, Yvonne G. van der Zwan, Charlotte W. Ockeloen   +19 more
wiley   +1 more source