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  • 常染色体显性耳聋5型_常染色体显性耳聋5型疾病数据库_常 . . .
    Deafness, Autosomal Dominant 5, also known as dfna5, is related to autosomal dominant nonsyndromic deafness and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a An important gene associated with Deafness, Autosomal Dominant 5 is GSDME (Gasdermin E) Affiliated tissues include brain and breast
  • 遗传性非综合征型耳聋的临床实践指南 - 中华医学遗传学杂志
    DFNB4型 (由SLC26A4基因突变导致)是一种常见的内耳发育畸形，主要表现为前庭导水管扩大 (enlarged vestibular aqueduct, EVA)，此类患儿一部分出生后或年幼时表现为重度－极重度耳聋，另一部分患儿出生时听力正常，成长过程出现进行性波动性听力下降，听力下降程度在不同的个体具有较大的差别，轻微的头部外伤、增加颅内压的运动、上呼吸道感染、气压的改变均可能导致患儿的听力突然下降，亦存在无明显诱因发生听力下降的情况。
  • Deafness, Autosomal Dominant 5 - MalaCards
    Deafness, autosomal dominant 5 is a form of non-syndromic sensorineural hearing loss characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss It is caused by a heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15
  • 焦孔素（gasdermins）家族蛋白在细胞死亡与炎症方面的综述
    GSDMD (也称为GSDMDC1，DFNA5L或FKSG10)首先通过在人类基因组数据库中搜索GSDMA的同源物而鉴定出来的。 GSDMD在不同的人类组织以及白细胞的不同亚群中广泛表达。 GSDMD直系同源基因仅存在于哺乳动物基因组中，并且都包含一个大的中央结构域，具有caspase 1和小鼠caspase 11或人caspase 4和5的切割位点。 然而，值得注意的是，在较低等的脊椎动物，例如斑马鱼中，caspase a (caspy)或caspase b (Caspy2)是人类caspase 1和人类caspase 4或5的同源物，据报道它们能诱导细胞死亡并参与免疫。 这表明GSDMD的功能同源物可能存在于这些低等脊椎动物中，尽管不能排除存在其他替代的细胞死亡途径。
  • Nonsyndromic deafness - Wikipedia
    Another 20% to 25% of nonsyndromic deafness cases are autosomal dominant, which means one copy of the altered gene in each cell is sufficient to result in hearing loss People with autosomal dominant deafness most often inherit an altered copy of the gene from a parent who has hearing loss
  • Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive . . .
    Autosomal dominant non-syndromic sensorineural deafness 15 (DFNA15) is caused by heterozygous mutations in the POU4F3 gene on chromosome 5q32 The POU4F3 gene encodes a transcription factor which plays a key role in the maintenance of inner ear hair cells
  • Autosomal recessive nonsyndromic deafness genes: a review
    In this report we summarize genes and mutations reported in families with ARNSHL Founder effects were demonstrated for some recurrent mutations but the most significant findings are the extreme locus and allelic heterogeneity and different spectrum of genes and mutations in each population
  • Non-syndromic dominant sensorineural hearing loss: from a few . . .
    Similar developments are taking place in the non-syndromic autosomal recessive hereditary forms of sensorineural hearing loss and deafness The above indicates clearly that before too long, new genetic investigation techniques will enable us to distinguish between forms of sensorineural hearing loss that could not be distinguished in the past
  • Autosomal Recessive Non-Syndromic Deafness: Is AAV Gene . . . - PubMed
    In non-syndromic sensorineural hearing impairment, around 75-85% of cases follow an autosomal recessive inheritance pattern In recent years, groundbreaking advancements in molecular gene therapy for inner-ear disorders have shown promising results





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