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Trichorhinophalangeal syndrome type II (TRPS II) is a condition that causes bone and joint malformations; distinctive facial features; intellectual disability; and abnormalities of the skin, hair, teeth, sweat glands, and nails. Explore symptoms, inheritance, genetics of this condition.

2017年4月20日 · Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by contiguous gene deletion of TRPS1, RAD21, and EXT1). Both types of TRPS are characterized by distinctive facial features, ectodermal features (fine, sparse, depigmented, and slow-growing hair, dystrophic nails ...

Winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation are distinctive characteristics of TRPS type II, while severe brachydactyly, due to short metacarpals, and severe short stature are typical of TRPS type III [1, 5].

2024年9月10日 · Trichorhinophalangeal syndrome type 2 (TRPS2), also known as Langer-Giedion syndrome, is a very rare disorder that affects many organs of the body.

2020年4月6日 · Trichorhinophalangeal syndrome type II (TRPS2), or Langer-Giedion syndrome (LGS), is a contiguous gene deletion syndrome characterized by cone-shaped epiphyses, multiple cartilaginous exostoses, and facial dysmorphism including bulbous nose, elongated upper lip with flat philtrum, and large protruding ears.

TRPS type 2 is caused by a microdeletion in chromosome 8q23.3-q24.11 leading to the loss of the genes TRPS1, RAD21 and EXT1 and is therefore a contiguous gene syndrome. Usually the microdeletion occurs de novo but some inherited cases have been reported.

Learn about the symptoms and diagnosis of trichorhinophalangeal syndrome, type 2 (TRPS2), a rare genetic condition also known as Langer-Giedion syndrome.

TrpS 是由 α (TrpA) 和 β (TrpB) 亚基以 αββα 排列形成的异源二聚酶复合物。 功能单元由 TrpA 和相关的 TrpB 亚基组成 （图 1a）。 (26,27) TrpA和TrpB之间沿催化路线紧密变构耦合，二者催化不同的同步反应（即，TrpA调节TrpB构象系综，反之亦然）。 构象系综的微调涉及刚性COMM结构域的开-闭（O-to-C）转变，形成覆盖TrpB活性位点的盖子和TrpA的活性位点loop，如X射线和计算数据所示。 考虑到亚基之间的紧密变构通讯，TrpA和TrpB在分离时效率要低得多，这阻碍 …

2023年10月25日 · 事情要从一篇综述说起：这篇文章发表在120分+Nature子刊上，介绍了TRP离子通路在各种疾病中的应用前景及临床状况。 凭借小云在生信海洋遨游多年的经验，一眼就看出，TRP通道必然是生信文章潜力股啊. 目前“TRP通道”整体生信发文量并不是很多，并且因为“TRP通道”在很多疾病中都有参与，所以咱们的发文空间还是相当大滴！ （ps：肿瘤和非肿瘤疾病都可以做，非肿瘤分析空间更大哦~） 话不多说，还是用事实说话，看一篇6.5分+生信文章的 …