X-linked dyskeratosis congenita: restrictive pulmonary disease and a novel mutation. Thorax 2001; 56:891-894Safa WF,Lestringant GG,Frossard PM.X-linked dyskeratosis congenita: restrictive pulmonary disease and a novel mutation.[J].2001,11(11)....
X-linked dyskeratosis congenita (X-DC) is caused by mutations in the housekeeping nucleolar protein dyskerin. Amino acid changes associated with X-DC are remarkably heterogeneous. Peripheral mononuclear blood cells and fibroblasts isolated from X-DC patients harbor lower steady-state telomerase RNA (TER...
先天性角化不全X连锁是英文Dyskeratosis congenita X-linked的中文翻译。该病是一种基因病、遗传病。佳学基因通过基因解码找到了导致这一疾病发生的基因。可以通过基因检测阻止先天性角化不全X连锁在后代或者二胎中的出现。根据《人的基因序列变化与人体疾病表征》,该病属于胎儿发育或出生异常。
Dyskeratosis congenita is a rare inherited bone marrow–failure syndrome characterized by abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. More than 80% of patients develop bone-marrow failure, and this is the major cause of premature death. The X-linked form of the disease (MI...
Examples of this skewed inactivation in blood cells are the totally asymptomatic female carriers of HPRT deficiency, X-linked a thalassemia with mental retar- dation, incontinentia pigmenti type 2, focal dermal hypoplasia, X-linked dyskeratosis congenita, X-linked agammaglobulinemia (in B cells), ...
Dyskeratosis congenita is an X-linked recessive disorder with diagnostic dermatological features, bone marrow hypofunction, and a predisposition to neoplas... JM Connor,D Gatherer,FC Gray,... - 《Human Genetics》 被引量: 208发表: 1986年 Assignment of the gene coding for the T3-delta subunit ...
Related to x-linked recessive inheritance:mitochondrial inheritance,Autosomal recessive inheritance,Autosomal dominant inheritance x-link·ed re·ces·sive in·her·i·tance (lingkt rē-ses'iv in-her'i-tăns) Atypeofgeneticdisorderinwhichthedisorderwilloccurin amalewithonecopyofthegeneandin afemale...
Skewed X-chromosome inactivation in female carriers of Dyskeratosis Congenita. Am I Hum Genet 1997;60:581-587. Mattei MG, Mattei IF, Ayme S. Giraud F. X-autosome translocations: cytogenetic characteristics and their consequences. Hum Genet 1982;61:295-309. Camargo M, Cewenka I. DNA ...
Because XCI, at least in the mouse system, is tightly linked to differentiation, we next tested whether the nonrandom pattern of XCI found in undifferentiated hiPSCs is maintained upon induction of differentiation. Two female STEMCCA-hiPSC lines, differing in which X chromosome they express, were...
Severe variant of x-linked dyskeratosis congenita (Hoyeraal-Hreidarsson Syndrome) causes significant enterocolitis in early infancy Hoyeraal-Hreidarsson syndrome (HHS, OMIM 300240) is a severe clinical variant of X-linked dyskeratosis congenita (DC) (1,2). In the majority of patients, the disease...