Results 111 to 120 of about 1,239,617 (330)

A Spontaneous Mutation in Contactin 1 in the Mouse

PLoS ONE, 2011
Mutations in the gene encoding the immunoglobulin-superfamily member cell adhesion molecule contactin1 (CNTN1) cause lethal congenital myopathy in human patients and neurodevelopmental phenotypes in knockout mice. Whether the mutant mice provide an accurate model of the human disease is unclear; resolving this will require additional functional tests ...
Davisson, Muriel T, Bronson, Roderick T, Tadenev, Abigail L D, Motley, William W, Krishnaswamy, Arjun, Seburn, Kevin L, Burgess, Robert W   +6 more
openaire   +6 more sources

Investigation of KIT gene mutations in women with 46,XX spontaneous premature ovarian failure

BMC Women's Health, 2002
Background Spontaneous premature ovarian failure presents most commonly with secondary amenorrhea. Young women with the disorder are infertile and experience the symptoms and sequelae of estrogen deficiency.
Nelson Lawrence M, Vanevski Konstantina, Vanderhoof Vien H, Tong Zhi-Bin, Shibanuma Kyoko   +4 more
doaj   +1 more source

Mitigating Cancer Therapy–Related Cognitive Impairment by Targeted Activation of Undruggable Phosphatase

Advanced Science, EarlyView.
An RVG‑engineered exosomal saRNA delivery system (RVG‑EVs‑saPtpro) effectively targets and activates hippocampal PTPRO, functioning as a “molecular brake” to alleviate cancer therapy‑related cognitive impairment (CTRCI) by enhancing neuronal survival, neurogenesis, and synaptic plasticity.
Zhimeng Yao, Yuhua Meng, Huanyi Li, Yinhui Jiang, Xiaona Lin, Mengyuan Hu, Qing Liu, Xiaofu Qiu, Hongzheng Ren, Yunlong Pan, Bin Pan, Zexiong Guo, Shuyao Zhang, Dianzheng Zhang, Li Yang, Shegan Gao, Weijing Deng, Jianfan Chen, Hao Zhang   +18 more
wiley   +1 more source

Protocol for the selection of Mycobacterium tuberculosis spontaneous resistant mutants to d-cycloserine

MethodsX
Mycobacterium tuberculosis (MTB) is known for its adaptive capability in developing resistance to antibiotics, through the selection of spontaneous mutations that arise during treatment.
Alejandra Osorio-González, Nataly Álvarez, Teresa Realpe, Jaime Robledo   +3 more
doaj   +1 more source

Absence of pathogenic mitochondrial DNA mutations in mouse brain tumors

BMC Cancer, 2005
Background Somatic mutations in the mitochondrial genome occur in numerous tumor types including brain tumors. These mutations are generally found in the hypervariable regions I and II of the displacement loop and unlikely alter mitochondrial function ...
Seyfried Thomas N, Kiebish Michael A
doaj   +1 more source

Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood [PDF]

, 2005
BACKGROUND: Pulmonary arterial hypertension (PAH) is a potentially fatal vasculopathy that can develop at any age. Adult-onset disease has previously been associated with mutations in BMPR2 and ALK-1.
Haworth, SG, Berger, R; id_orcid, Aldred, M A, Morrell, NW, Harrison, RE, Morrell, Nicholas W., Morrell, N W, Mache, CJ, Haworth, S G, Trembath, R C, Mache, Christoph J., Aldred, MA, Trembath, RC, Berger, Rolf, Aldred, Micheala A., Berger, R, Tulloh, R, Harrison, R E, Harrison, Rachel E., Haworth, Sheila G., Mache, C J, Trembath, Richard C., Tulloh, Robert   +22 more
core   +1 more source

FGF13 Deficiency Ameliorates Paclitaxel‐Induced Neuropathic Pain by Inhibiting VASH1‐Mediated Microtubule Detyrosination to Promote Mitophagy

Advanced Science, EarlyView.
FGF13 is upregulated in DRG neurons of PIPNP model mice. DRG neuron‐specific knockout of FGF13 ameliorates PIPNP symptoms. Mechanistically, FGF13 potentiates microtubule detyrosination by promoting VASH1 binding to microtubules. FGF13 knockout suppresses VASH1‐mediated microtubule detyrosination and promotes α‐tubulin tyrosination.
Yiming Dong, Yidan Wang, Simeng Lv, Zishan Dong, Kaixi Zhi, Xiuhua Guo, Xuyan Li, Ruoxi Yu, Yiyi Zhang, Siyuan Cheng, Chuan Wang   +10 more
wiley   +1 more source

A step-wise, deterministic and fatal mouse model of myeloid neoplasm with spontaneous acquisition of patient-relevant RTK–RAS mutations [PDF]

Marija Zarocsinceva, M. Saeed Qureshi, Nicola K. Wilson, George Giotopoulos, Blaise Musabe, Katherine Sturgess, M. S. Vijayabaskar, Sarah J. Kinston, Ryan Asby, David J. Adams, Brian J.P. Huntly, Fernando J. Calero-Nieto, Berthold Göttgens   +12 more
openalex   +3 more sources

The rate of spontaneous mutations in yeast deficient for MutSβ function. [PDF]

G3 (Bethesda), 2023
Plavskin Y, de Biase MS, Schwarz RF, Siegal ML.   +3 more
europepmc   +1 more source

SNAP25 disease mutations change the energy landscape for synaptic exocytosis due to aberrant SNARE interactions

eLife
SNAP25 is one of three neuronal SNAREs driving synaptic vesicle exocytosis. We studied three mutations in SNAP25 that cause epileptic encephalopathy: V48F, and D166Y in the synaptotagmin-1 (Syt1)-binding interface, and I67N, which destabilizes the SNARE ...
Anna Kádková, Jacqueline Murach, Maiken Østergaard, Andrea Malsam, Jörg Malsam, Fabio Lolicato, Walter Nickel, Thomas H Söllner, Jakob Balslev Sørensen   +8 more
doaj   +1 more source