Results 81 to 90 of about 473,993 (259)

Phenotypes for two heterozygous genotypes.

, 2013
Phenotypes for two heterozygous genotypes.
Saad Mneimneh (322685)
core   +1 more source

Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing [PDF]

, 2016
PURPOSE We aimed to achieve a retrospective molecular diagnosis by applying state-of-the-art genomic sequencing methods to past patients with T-B+NK+ severe combined immunodeficiency (SCID).
Swan, DJ, Germani Batacchi, MGC, Mila G. C. Germani Batacchi, Shahnaz Bibi, Xu, Yaobo, Abinun, Mario, Sophie Hambleton, Willet, JDP, Hambleton, Sophie, Lucy Jenkins, Andrew J. Cant, Santibanez Koref, Mauro, Swan, David, David J. Swan, Slatter, MA, Abd Hamid, IJ, Jenkins, L, Xu, Y, Cant, Andrew J, Agyeman, Philipp, Bibi, S, Santibanez Koref, M, Angela Grainger, Kimberly Gilmour, Barge, D, Abd Hamid, Intan J, Cant, AJ, Intan J. Abd Hamid, Gennery, AR, Willet, Joseph D P, Mario Abinun, Jenkins, Lucy, Flood, TJ, Germani Batacchi, Mila G C, Philipp Agyeman, Grainger, A, Gilmour, K, Andrew R. Gennery, Grainger, Angela, Karin R. Engelhardt, Dawn Barge, Flood, Terence J, Barge, Dawn, Engelhardt, Karin R, Gilmour, Kimberly, Slatter, Mary A, Abinun, M, Joseph D. P. Willet, Mary A. Slatter, Gennery, Andrew R, Yaobo Xu, Agyeman, P, Swan, David J, Bibi, Shahnaz, Terence J. Flood, Hambleton, S, Engelhardt, KR, Mauro Santibanez Koref   +57 more
core   +3 more sources

Thymosin Alpha‐1 Provides Direct Neuroprotection by Engaging the Orexin Receptor HCRTR1 to Suppress Neuronal Necroptosis

Advanced Science, EarlyView.
In this study, we unveil a thymus‐brain endocrine axis wherein Tα1 engages HCRTR1 to inhibit RIPK3‐mediated necroptosis. This study nominates the Tal‐HCRTR1‐RIPK3 axis as a potent and clinically translatable therapeutic target for stroke and neurodegeneration.
Xinmei Kang, Shisi Wang, Liubin Zhang, Mengyan Hu, Xiaotao Su, Yuxin Liu, Qin Qin, Haotong Yi, Liling Yuan, Wei Cai, Lei Wei, Zhengqi Lu   +11 more
wiley   +1 more source

Anti-PCSK9 antibodies for the treatment of heterozygous familial hypercholesterolemia: patient selection and perspectives

, 2017
Alberico Luigi Catapano,1,2 Angela Pirillo,1,2 Giuseppe Danilo Norata1,3,4 1Department of Pharmacological and Biomolecular Sciences, Università degli Studi di Milano, 2IRCCS Multimedica Hospital, Sesto San Giovanni, 3Center for the Study of ...
Pirillo A, Norata GD, Catapano AL
core  

A simple PCR-RFLP method for genetic phase determination in compound heterozygotes

Frontiers in Genetics, 2012
When susceptibility to diseases is caused by cis-effects of multiple alleles at adjacent polymorphic sites, it may be difficult to assess with confidence the genetic phase and identify individuals carrying the risk haplotype.
Rodney T Perry, Harsh eDwivedi, Brahim eAissani   +2 more
doaj   +1 more source

Osr1 heterozygous mice overactivated AKT and mTOR signaling in liver.

, 2022
(A). Immunoblot of hepatic Akt, p-AKT, mTOR and p-mTOR in male mice. (B) Osr1 heterozygous male mice had elevated p-AKT/AKT compared to WT male mice. (B). Osr1 heterozygous male mice had elevated p-mTOR/mTOR compared to WT male mice. (C).
Lin Liu (74495), Linglin Xie (511386), Ernest C. Lynch (12769954), Zhimin Liu (1392073), Xian Wang (15374), Ke K. Zhang (12769957)   +5 more
core   +1 more source

Astrocytic LMP2 Coordinates NF‐κB and TGF‐β1/Smad3 Signaling to Drive Neuroinflammation after Cerebral Ischemia/Reperfusion

Advanced Science, EarlyView.
ABSTRACT Astrocyte reactivity critically shapes neuroinflammatory outcomes after ischemic stroke, yet the upstream regulators governing astrocyte state transitions remain incompletely defined. Here, we identify the immunoproteasome subunit low molecular weight protein 2 (LMP2) as an important modulator of astrocyte functional remodeling following ...
Yanguang Mao, Rulan Ma, Zejing Lin, Huiying Zhao, Yuexian Liu, Yonghe Su, Xu Zhang, Xingyong Chen   +7 more
wiley   +1 more source

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure [PDF]

, 2005
Disruption of the P450 side-chain cleavage cytochrome (P450scc) enzyme due to deleterious mutations of the CYP11A1 gene is thought to be incompatible with fetal survival because of impaired progesterone production by the fetoplacental unit.
Werner, R, Hiort, O, Achermann, JC, Riepe, FG, Partsch, CJ, Holterhus, PM, Marschke, C, Hoppe, U, Struve, D   +8 more
core  

Therapeutic Gene Editing of APOE4 in Sporadic Alzheimer's Disease via Prime Editor 7

Advanced Science, EarlyView.
Prime Editor 7‐mediated conversion of APOE4 to APOE3 alleviates Alzheimer's disease‐associated pathology in AD mouse models and patient‐derived neurons and improves cognitive performance in vivo, supporting therapeutic genome editing as a promising strategy for APOE4‐associated neurodegeneration.
Yunkyung Kim, Gaeun Lee, Saemin An, Hanseul Park, Hongwon Kim, Jisung Kim, Soi Kang, Sumin Kim, Daeyeol Kwon, Jeonghyun Park, Yerim Hwang, Seonghun Kim, Xiuwen Yuan, Jaehoon Jeong, Hamin Lee, Hui Kwon Kim, Jongpil Kim   +16 more
wiley   +1 more source

Cancer‐Associated BCL‐2 Mutants Reveal Mechanisms Towards Venetoclax Resistance

Advanced Science, EarlyView.
Venetoclax (VEN) resistance in chronic lymphocytic leukemia arises from diverse BCL2 mutations. We map mechanisms contributing to VEN resistance across common BCL‐2 variants. G101V and D103Y reduce drug binding and increase sequestration of pro‐apoptotic proteins. V156D blocks VEN allosterically.
Jonas Aufdermauer, Ian de Ridder, Mahjoobeh Ehsani, Marasim Khan, Justin Kale, Lukas P. Frenzel, David Andrews, Spyridoula Karamanou, Ana J. Garcia‐Saez, Geert Bultynck   +9 more
wiley   +1 more source