抗原变异可使得多种致病微生物易于逃避宿主免疫应答。表达在感染红细胞表面的恶性疟原虫红细胞表面蛋白1（PfPMP1）与感染红细胞、内皮细胞、树突状细胞以及胎盘的单个或多个受体作用，在黏附及免疫逃避中起关键的作用。每个单倍体基因组var基因家族编码约60种成员，通过启动转录不同的var基因变异体为抗原变异提供了分子基础。

疟原虫var基因转换速率变化导致抗原变异[英]／Paul H, Robert P, Christodoulou Z, et al//Proc Natl Acad Sci U S A

Over the past decade, the Nomenclature Committee on Cell Death (NCCD) has formulated guidelines for the definition and interpretation of cell death from morphological, biochemical, and functional perspectives. Since the field continues to expand and novel mechanisms that orchestrate multiple cell death pathways are unveiled, we propose an updated classification of cell death subroutines focusing on mechanistic and essential (as opposed to correlative and dispensable) aspects of the process. As we provide molecularly oriented definitions of terms including intrinsic apoptosis, extrinsic apoptosis, mitochondrial permeability transition (MPT)-driven necrosis, necroptosis, ferroptosis, pyroptosis, parthanatos, entotic cell death, NETotic cell death, lysosome-dependent cell death, autophagy-dependent cell death, immunogenic cell death, cellular senescence, and mitotic catastrophe, we discuss the utility of neologisms that refer to highly specialized instances of these processes. The mission of the NCCD is to provide a widely accepted nomenclature on cell death in support of the continued development of the field.

https://biblio.ugent.be/publication/8555786/file/8555788.pdf

Molecular mechanisms of cell death: recommendations of the Nomenclature Committee on Cell Death 2018.

In 2009, the Nomenclature Committee on Cell Death (NCCD) proposed a set of recommendations for the definition of distinct cell death morphologies and for the appropriate use of cell death-related terminology, including 'apoptosis', 'necrosis' and 'mitotic catastrophe'. In view of the substantial progress in the biochemical and genetic exploration of cell death, time has come to switch from morphological to molecular definitions of cell death modalities. Here we propose a functional classification of cell death subroutines that applies to both in vitro and in vivo settings and includes extrinsic apoptosis, caspase-dependent or -independent intrinsic apoptosis, regulated necrosis, autophagic cell death and mitotic catastrophe. Moreover, we discuss the utility of expressions indicating additional cell death modalities. On the basis of the new, revised NCCD classification, cell death subroutines are defined by a series of precise, measurable biochemical features.

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Molecular definitions of cell death subroutines: recommendations of the Nomenclature Committee on Cell Death 2012

Importance Glaucoma is a worldwide leading cause of irreversible vision loss. Because it may be asymptomatic until a relatively late stage, diagnosis is frequently delayed. A general understanding of the disease pathophysiology, diagnosis, and treatment may assist primary care physicians in referring high-risk patients for comprehensive ophthalmologic examination and in more actively participating in the care of patients affected by this condition. Objective To describe current evidence regarding the pathophysiology and treatment of open-angle glaucoma and angle-closure glaucoma. Evidence Review A literature search was conducted using MEDLINE, the Cochrane Library, and manuscript references for studies published in English between January 2000 and September 2013 on the topics open-angle glaucoma and angle-closure glaucoma. From the 4334 abstracts screened, 210 articles were selected that contained information on pathophysiology and treatment with relevance to primary care physicians. Findings The glaucomas are a group of progressive optic neuropathies characterized by degeneration of retinal ganglion cells and resulting changes in the optic nerve head. Loss of ganglion cells is related to the level of intraocular pressure, but other factors may also play a role. Reduction of intraocular pressure is the only proven method to treat the disease. Although treatment is usually initiated with ocular hypotensive drops, laser trabeculoplasty and surgery may also be used to slow disease progression. Conclusions and Relevance Primary care physicians can play an important role in the diagnosis of glaucoma by referring patients with positive family history or with suspicious optic nerve head findings for complete ophthalmologic examination. They can improve treatment outcomes by reinforcing the importance of medication adherence and persistence and by recognizing adverse reactions from glaucoma medications and surgeries.

https://jamanetwork.com/journals/jama/articlepdf/1869215/jrv140004.pdf

The Pathophysiology and Treatment of Glaucoma: A Review

Primary open-angle glaucoma.

Familial normal tension glaucoma genetics

Cavitary Optic Disc Anomaly.

In 1997, Stone and colleagues discovered that a gene (GLC1A) on the long arm of chromosome 1 caused a large percentage of autosomal dominant juvenile-onset primary open-angle glaucoma (POAG). GLC1A encodes a 57-kDa protein, known as myocilin, which is expressed in the trabecular meshwork, ciliary body, retina, and 17 of 23 other organs throughout the body (Fingert et al. 1998). In the trabecular meshwork, myocilin production can be induced by corticosteroids, leading some to call it trabecular-meshwork inducible glucocorticoid response (TIGR) protein (Polansky et al. 1997).

Characterization of a Large Family with Adult-Onset Primary Open-Angle Glaucoma Caused by a Mutation in the GLC1A Gene

Mutations in EFEMP1 in patients with juvenile open-angle glaucoma (JOAG).

This invention provides methods and compositions for diagnosing and treating glaucoma based on determining the level of a Frizzle Related Protein (FRP), a component of the wingless (Wnt) signaling pathway The method can include the detection of a genetic lesion like polymorphic allele (eg FRP promoter, ) for diagnosing glaucoma This invention also discloses the use of transgenic animals for the study of glaucoma (screening for therapeutics, animal disease model, )

John H. Fingert

Papers

Familial normal tension glaucoma genetics

Cavitary Optic Disc Anomaly.

Characterization of a Large Family with Adult-Onset Primary Open-Angle Glaucoma Caused by a Mutation in the GLC1A Gene

Mutations in EFEMP1 in patients with juvenile open-angle glaucoma (JOAG).

Method for sieving crimp-relevant protain activator or antagonist