発表された論文を掲載しています。

HNRNP全体

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

(HNRNP遺伝子の稀な有害な変異は共通の神経発達障害をもたらす)

Gillentine et al. Genome Medicine 2021

HNRNPH2

「A Prospective, Longitudinal Study of Caregiver‑ReportedAdaptive Skills and Function of Individuals with HNRNPH2‑related Neurodevelopmental Disorder」

(HNRNPH2関連神経発達障害患者の介護者が報告する適応能力と機能に関する前向き縦断研究)

Thomas J. Davis et al Advances in Neurodevelopmental Disorders 07 August 2023

A murine model of hnRNPH2-related neurodevelopmental disorder reveals a mechanism for genetic compensation by Hnrnph1

(hn RNPH2関連の神経発達障害のマウスモデルがHnrnph1の遺伝的補償のメカニズムを明らかにした)

Ane Korff et al J Clin Invest 2023

Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder

(HNRNPH2関連神経発達障害におけるレット症候群様の表現型)

Joseph Nicho Gonzalez et al Genes 2023

A new Karyopherin-β2 binding PY-NLS epitope of HNRNPH2 linked to neurodevelopmental disorders

(HNRNPH2神経発達障害の新しいカリオフェリンβ2結合PY-NLSエピトープ)

Abner Gonzalez et al Structure 2023

HNRNPH2-Related Neurodevelopmental Disorder

(HNRNPH2関連神経発達障害)

Sehajvir Madhok, Jennifer Bain GeneReviews 2022

Generation of an iPSC line (SMCPGi001-A) from a patient with Bain type X-linked mental retardation syndrome carrying HNRNPH2 gene mutation

(HNRNPH2遺伝子変異によるBain型X連鎖性精神発達遅滞患者からのiPS細胞株(SMCPGi001-A)の作製)

Xiuwei Ma et al Stem Cell Research 2021

Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder

(X連鎖性HNRNPH2関連神経発達障害の詳細な臨床的・心理学的表現型)

Jennifer M. Bain et al Neurol Genet 2021

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females

(X染色体上のHNRNPH2の変異は女性の神経発達障害と関連する)

Jennifer M. Bain et al The American Journal of Human Genetics 2016

HNRNPH1

HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome

(HNRNPH1関連知的障害:神経発達症候群を示唆する7症例の追加)

Sara C Reichert et al Clin Genet 2020

Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation

(バイン型精神発達遅滞のもう一つの遺伝子であるHNRNPH1のエビデンス)

Jacek Pilch et al Clin Genet 2018

HNRNPU

HNRNPU-Related Neurodevelopmental Disorder

(HNRNPU関連神経発達障害)

Meena Balasubramanian et al Gene reviews 2022

Expanding the phenotype of HNRNPU ‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature

(HNRNPU関連神経発達障害の表現型の拡大と発作表現型に重点を置いた文献レビュー)

James Taylor et al Am J Med Genet. 2022

HNRNPK

「An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

(HNRNPK特異的DNAメチル化シグネチャーがミスセンス変異を解明しAu-Kline症候群の表現型スペクトルを拡大する)

Sanaa Choufani et al The American Journal of Human Genetics October 6, 2022

Au-Kline Syndrome」:HNRNPK

(エーユー・クライン症候群)

Ping-Yee Billie Au et al .Gene reviews 2019HNRNPU

Okamoto syndrome has features overlapping with Au–Kline syndrome and is caused by HNRNPK mutation

(オカモト症候群はAu-Kline症候群と重なる特徴を持ち、HNRNPK変異によって引き起こされる)

Nobuhiko Okamoto .ajmg 2019

GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK

(HNRNPKのde novo変異体による知的障害、特異的な顔面異形、骨格・結合組織異常を伴う新しい奇形症候群の同定にGeneMatcherが貢献)

P.Y. Billie Au et al Hum Mutat. 2015 October

HNRNPQ

Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder

(神経発達障害の原因としてのSYNCRIPのde novo変異のさらなるエビデンス)

Francesca Semino et al Human Mutation. 2021

HNRNPR

HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans

(ホメオボックス遺伝子の発現を阻害するHNRNPR変異体がヒトの発達障害を引き起こす)

Floor A. Duijkers et al The American Journal of Human Genetics June 6, 2019

HNRNPC

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

(HNRNPCのハプロ不全は知的障害関連遺伝子の代替スプライシングに影響を与え、神経発達障害を引き起こす)

Eva Niggl et al.The American Journal of Human Genetics August 3, 2023

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