Three <scp>KINSSHIP</scp> syndrome patients with mosaic and germline <scp> <i>AFF3</i> </scp> variants-Reference-Cited by-同舟云学术

Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants

Published:2023-01-07 Issue:5 Volume:103 Page:590-595
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Inoue Yuta¹^ORCID,Tsuchida Naomi¹²^ORCID,Okamoto Nobuhiko³,Shuichi Shimakawa⁴,Ohashi Kei⁵^ORCID,Saitoh Shinji⁵,Ogawa Atsushi⁶,Hamada Keisuke⁷,Sakamoto Masamune¹,Miyake Noriko¹⁸,Hamanaka Kohei¹^ORCID,Fujita Atsushi¹,Koshimizu Eriko¹^ORCID,Miyatake Satoko¹⁹^ORCID,Mizuguchi Takeshi¹^ORCID,Ogata Kazuhiro⁷,Uchiyama Yuri¹²^ORCID,Matsumoto Naomichi¹^ORCID

Affiliation:

1. Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan

2. Department of Rare Disease Genomics Yokohama City University Hospital Yokohama Japan

3. Department of Medical Genetics Osaka Women's and Children's Hospital Izumi Japan

4. Department of Pediatrics Osaka Medical and Pharmaceutical University Hospital Osaka Japan

5. Department of Pediatrics and Neonatology Nagoya City University Graduate School of Medical Sciences Nagoya Japan

6. Department of Pediatrics, Chikushi Hospital Fukuoka University Fukuoka Japan

7. Department of Biochemistry Yokohama City University Graduate School of Medicine Yokohama Japan

8. Department of Human Genetics, Research Institute National Center for Global Health and Medicine Tokyo Japan

9. Department of Clinical Genetics Yokohama City University Hospital Yokohama Japan

Funder

Japan Agency for Medical Research and Development

Takeda Science Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14292

Reference10 articles.

1. A binding motif for Siah ubiquitin ligase

2. The Super Elongation Complex Family of RNA Polymerase II Elongation Factors: Gene Target Specificity and Transcriptional Output

3. Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

4. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

5. Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

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1. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles;Genome Medicine;2024-05-30

2. Molecular evolution of transcription factors AF4/FMR2 family member (AFF) gene family and the role of lamprey AFF3 in cell proliferation;Development Genes and Evolution;2024-05-11

3. Variant-specific pathophysiological mechanisms ofAFF3differently influence transcriptome profiles;2024-01-17