A telomerase component is defective in the human disease dyskeratosis congenita (Q22010917)

Dimensions Publication ID

Dimensions

1047096543

6 February 2023

E Wood

series ordinal

2

author given names

Emily

author last names

Wood

1 reference

Dimensions Publication ID

Dimensions

1047096543

6 February 2023

K Collins

series ordinal

3

author given names

Kathleen

author last names

Collins

1 reference

Dimensions Publication ID

Dimensions

1047096543

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

6 February 2023

language of work or name

English

0 references

publication date

2 December 1999

0 references

published in

Nature

0 references

volume

402

0 references

issue

6761

0 references

page(s)

551-5

0 references

cites work

1 reference

7 January 2021

Function and synthesis of small nucleolar RNAs

1 reference

7 January 2021

A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3' end

1 reference

7 January 2021

In vivo alteration of telomere sequences and senescence caused by mutated Tetrahymena telomerase RNAs

1 reference

7 January 2021

Telomere maintenance mechanisms and cellular immortalization.

1 reference

7 January 2021

The telomerase reverse transcriptase: components and regulation

1 reference

7 January 2021

The box H + ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase

1 reference

7 January 2021

Cbf5p, a potential pseudouridine synthase, and Nhp2p, a putative RNA-binding protein, are present together with Gar1p in all H BOX/ACA-motif snoRNPs and constitute a common bipartite structure.

1 reference

7 January 2021

NAP57, a mammalian nucleolar protein with a putative homolog in yeast and bacteria

1 reference

7 January 2021

The RNA component of human telomerase

1 reference

7 January 2021

Dyskeratosis and ribosomal rebellion

1 reference

7 January 2021

Telomere elongation in immortal human cells without detectable telomerase activity

1 reference

7 January 2021

Four newly located pseudouridylate residues in Escherichia coli 23S ribosomal RNA are all at the peptidyltransferase center: analysis by the application of a new sequencing technique.

1 reference

7 January 2021

Small nucleolar RNAs direct site-specific synthesis of pseudouridine in ribosomal RNA

1 reference

7 January 2021

Site-specific pseudouridine formation in preribosomal RNA is guided by small nucleolar RNAs

1 reference

7 January 2021

Telomere reduction in human colorectal carcinoma and with ageing

1 reference

7 January 2021

Telomeres shorten during ageing of human fibroblasts

1 reference

7 January 2021

Abnormal telomere dynamics of B-lymphoblastoid cell strains from Werner's syndrome patients transformed by Epstein-Barr virus

1 reference

7 January 2021

Dyskeratosis congenita: an inherited bone marrow failure syndrome

1 reference

7 January 2021

Dyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature

1 reference

7 January 2021

Dyskeratosis congenita: Hematologic evaluation of a sibship and review of the literature

1 reference

7 January 2021

Specific Association of Human Telomerase Activity with Immortal Cells and Cancer

1 reference

7 January 2021

Developmental and tissue-specific regulation of mouse telomerase and telomere length

1 reference

7 January 2021