(Q36719169)

English

Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis

scientific article published on 24 April 2008

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scholarly article

1 reference

Europe PubMed Central

15 August 2017

Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis (English)

1 reference

Europe PubMed Central

15 August 2017

Akemi Ishida-Yamamoto

3

object named as

Akemi Ishida-Yamamoto

0 references

2

object named as

Ronen Spiegel

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object named as

Ehud Lipkin

7

0 references

12

object named as

Reuven Bergman

1 reference

Europe PubMed Central

15 August 2017

author name string

Janna Nousbeck

1

1 reference

Europe PubMed Central

15 August 2017

Margarita Indelman

4

1 reference

Europe PubMed Central

15 August 2017

Ayelet Shani-Adir

5

1 reference

Europe PubMed Central

15 August 2017

Noam Adir

6

1 reference

Europe PubMed Central

15 August 2017

Sivan Bercovici

8

1 reference

Europe PubMed Central

15 August 2017

Dan Geiger

9

1 reference

Europe PubMed Central

15 August 2017

Maurice A van Steensel

10

1 reference

Europe PubMed Central

15 August 2017

Peter M Steijlen

11

1 reference

Europe PubMed Central

15 August 2017

Albrecht Bindereif

13

1 reference

Europe PubMed Central

15 August 2017

Mordechai Choder

14

1 reference

Europe PubMed Central

15 August 2017

Stavit Shalev

15

1 reference

Europe PubMed Central

15 August 2017

Eli Sprecher

16

1 reference

Europe PubMed Central

15 August 2017

language of work or name

0 references

publication date

24 April 2008

1 reference

Europe PubMed Central

15 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

15 August 2017

82

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Europe PubMed Central

15 August 2017

1114-1121

1 reference

Europe PubMed Central

15 August 2017

5

1 reference

Europe PubMed Central

15 August 2017

Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function.

1 reference

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Dystonia in the Woodhouse Sakati syndrome: A new family and literature review

1 reference

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Exploring the extremes of sequence/structure space with ensemble fold recognition in the program Phyre

1 reference

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New perspectives for the elucidation of genetic disorders

1 reference

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The multifunctional nucleolus

1 reference

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Chaperoning ribonucleoprotein biogenesis in health and disease

1 reference

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Structure and interactions of the first three RNA recognition motifs of splicing factor prp24

1 reference

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Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH

1 reference

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30 September 2017

Human RBM28 protein is a specific nucleolar component of the spliceosomal snRNPs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427309

30 September 2017

Impaired ribosome biogenesis in Diamond-Blackfan anemia

1 reference

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Hairless and Wnt signaling: allies in epithelial stem cell differentiation

1 reference

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Homeodomain-mediated beta-catenin-dependent switching events dictate cell-lineage determination

1 reference

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Mendelian disorders deserve more attention

1 reference

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Ribosomes and marrow failure: coincidental association or molecular paradigm?

1 reference

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30 September 2017

Prp43p is a DEAH-box spliceosome disassembly factor essential for ribosome biogenesis

1 reference

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30 September 2017

Genetic hair and nail disorders

1 reference

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30 September 2017

Nucleolar proteome dynamics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427309

30 September 2017

Functional proteomic analysis of human nucleolus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427309

30 September 2017

beta-Catenin controls hair follicle morphogenesis and stem cell differentiation in the skin

1 reference

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30 September 2017

The yeast nucleolar protein Nop4p contains four RNA recognition motifs necessary for ribosome biogenesis.

1 reference

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30 September 2017

Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers

1 reference

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28 June 2018

Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: association with an 18p11.3 deletion.

1 reference

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5 September 2018

A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31.

1 reference

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Johnson-McMillin syndrome: report of a new case with novel features.

1 reference

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5 September 2018

Progressive extrapyramidal disorder with primary hypogonadism and alopecia in sibs: a new syndrome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/18439547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1

1 reference

https://pubmed.ncbi.nlm.nih.gov/18439547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2008.03.014

1 reference

Europe PubMed Central

15 August 2017

1 reference

Europe PubMed Central

15 August 2017

1 reference

Europe PubMed Central

15 August 2017

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