Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis-Reference-Cited by-同舟云学术

Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis

Published:2021-04-21 Issue:7 Volume:185 Page:2175-2179
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Hanafusa Hiroaki¹²³⁴,Hidaka Yoshihiko⁵⁶,Yamaguchi Tomomi¹²³,Shimojo Hisashi⁷⁸,Tsukahara Takanori⁹,Murase Tsubasa⁵,Matsuoka Daisuke⁵,Chiba Nao⁵,Shimada Shun⁵,Morokawa Hirokazu⁵,Omori Norio¹⁰,Minoura Hironori¹⁰,Nagano China¹¹,Takano Kyoko¹²^ORCID,Nakamura Katsuya¹²,Wakui Keiko¹²,Fukushima Yoshimitsu¹²,Uehara Takeshi⁷,Nakazawa Yozo⁵,Iijima Kazumoto¹¹,Nozu Kandai¹¹^ORCID,Kosho Tomoki¹²³¹²^ORCID

Affiliation:

1. Department of Medical Genetics Shinshu University School of Medicine Matsumoto Japan

2. Center for Medical Genetics Shinshu University Hospital Matsumoto Japan

3. Division of Clinical Sequencing Shinshu University School of Medicine Matsumoto Japan

4. Problem‐Solving Oriented Training Program for Advanced Medical Personnel: NGSD (Next Generation Super Doctor) Project Matsumoto Japan

5. Department of Pediatrics Shinshu University School of Medicine Matsumoto Japan

6. Department of Molecular Genetics Wakayama Medical University Wakayama Japan

7. Department of Laboratory Medicine Shinshu University Graduate School of Medicine Matsumoto Japan

8. Department of Pathology Aizawa Hospital Matsumoto Japan

9. Department of Pediatrics Iida Municipal Hospital Iida Japan

10. Department of Pediatric Intensive Care Nagano Children's Hospital Azumino Japan

11. Department of Pediatrics Kobe University Graduate School of Medicine Kobe Japan

12. Research Center for Supports to Advanced Science Shinshu University Matsumoto Nagano Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62216

Reference13 articles.

1. Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management

2. TRPC6 Mutations in Children with Steroid-Resistant Nephrotic Syndrome and Atypical Phenotype

3. Nephrotic syndrome in the 1st year of life

4. A Novel TRPC6 Mutation That Causes Childhood FSGS

5. New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis

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1. Novel Pathogenic Mutation of P209L in TRPC6 Gene Causes Adult Focal Segmental Glomerulosclerosis;Biochemical Genetics;2024-02-05

2. Novel NUP93 Gene Variant and Diffuse Mesangial Sclerosis in Steroid Resistant Nephrotic Syndrome;Indian Journal of Pediatrics;2023-10-19

3. Necessity of genetic testing on asymptomatic proteinuria before the progression of nephrotic syndrome in children with focal segmental glomerulosclerosis;Pediatric Nephrology;2023-05-10

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