Debilitating hip degeneration in trichothiodystrophy: Association with <scp> <i>ERCC2</i> </scp> / <scp> <i>XPD</i> </scp> mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis-Reference-Cited by-同舟云学术

Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2 / XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis

Published:2022-09-14 Issue:12 Volume:188 Page:3448-3462
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

DiGiovanna John J.¹^ORCID,Randall Grant¹²,Edelman Alexandra¹,Allawh Rina¹,Xiong Michael¹,Tamura Deborah¹^ORCID,Khan Sikandar G.¹^ORCID,Rizza Elizabeth R. H.¹^ORCID,Reynolds James C.³,Paul Scott M.⁴,Hill Suvimol C.⁵,Kraemer Kenneth H.¹^ORCID

Affiliation:

1. DNA Repair Section Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, NIH Bethesda Maryland USA

2. NIH Medical Research Scholars Program Bethesda Maryland USA

3. Department of Radiology and Imaging Sciences Clinical Center, NIH Bethesda Maryland USA

4. Rehabilitation Medicine Department Clinical Center, NIH Bethesda Maryland USA

5. Department of Radiology Clinical Center, NIH Bethesda Maryland USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62962

Reference36 articles.

1. TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin

2. From Structure to Phenotype: Impact of Collagen Alterations on Human Health

3. Growth and Nutrition in Children With Trichothiodystrophy

4. Normal development of the hip: a geometrical analysis based on planimetric radiography

5. Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy

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1. TFIIH central activity in nucleotide excision repair to prevent disease;DNA Repair;2023-12

2. Expanding the phenotype of GTF2E2‐associated trichothiodystrophy;Journal of the European Academy of Dermatology and Venereology;2023-10-16

3. Trichothiodystrophy‐associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation;EMBO Molecular Medicine;2023-10-06

4. TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy;Human Mutation;2022-11-02