Hirofumi Ohashi
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View article: Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis
Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis Open
View article: Familial Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins Caused by Paternal <scp><i>FOXF1</i></scp> Upstream Enhancer Deletion: A Case Report
Familial Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins Caused by Paternal <span><i>FOXF1</i></span> Upstream Enhancer Deletion: A Case Report Open
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal disease characterized by severe respiratory distress and pulmonary hypertension during the neonatal period, which is seldom diagnosed prenatally. Ten pe…
View article: Idiopathic pulmonary hemosiderosis associated with Kabuki syndrome
Idiopathic pulmonary hemosiderosis associated with Kabuki syndrome Open
Kabuki syndrome (KS) is a genetic disorder caused by gene mutations in either lysine-specific methyltransferase 2D (KMT2D) or lysine demethylase 6A (KDM6A). This congenital disorder exhibits characteristic facial features, developmental de…
View article: Dyssegmental dysplasia Rolland–Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients
Dyssegmental dysplasia Rolland–Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients Open
Dyssegmental dysplasia (DD) is a severe skeletal dysplasia comprised of two subtypes: lethal Silverman–Handmaker type (DDSH) and nonlethal Rolland–Desbuquois type (DDRD). DDSH is caused by biallelic pathogenic variants in HSPG2 encoding pe…
View article: Five Cases of Fenfluramine Therapy for Dravet Syndrome
Five Cases of Fenfluramine Therapy for Dravet Syndrome Open
要旨:Dravet症候群に対するfenfluramine(FFA)療法の有効性と安全性を評価した。対象は2022年11月から2023年8月の間に当センターでFFAを投与したDravet症候群5例とした。全例で焦点起始両側強直間代発作(focal to bilateral tonic clonic seizure:FBTCS)が主体の発作型であり、FFA療法前のFBTCS頻度は中央値4(2~12)回/月であった。FFA開始年齢の中央値は7.6(2.4~10.9)歳、FFA維持…
View article: Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome
Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome Open
These results revealed that WHS-related DNA methylation signatures are dependent on NSD2 dysfunction and could be useful in identifying NSD2 variants of uncertain significance.
View article: Anti-hepatitis C Virus Activity of Juglorubin Derivatives
Anti-hepatitis C Virus Activity of Juglorubin Derivatives Open
Juglorubin is a natural dye isolated from the culture of Streptomyces sp. 3094, 815, and GW4184. It has been previously synthesized via the biomimetic dimerization of juglomycin C, a plausible genetic precursor. In this study, the derivati…
View article: Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm Open
View article: Lacosamide Was Effective for Epilepsy in Two Infants with <i>KCNQ2</i>-related Developmental and Epileptic Encephalopathy
Lacosamide Was Effective for Epilepsy in Two Infants with <i>KCNQ2</i>-related Developmental and Epileptic Encephalopathy Open
KCNQ2 variantを認めた発達性てんかん性脳症のてんかんにラコサミド(Lacosamide;LCM)が有効であった2例を報告する。症例1:5歳9カ月男児。出生直後に焦点起始の低換気と強直発作を認め、発作間欠期脳波はsuppression burstを認めた。3歳10カ月時に起始不明の強直から脱力に発展する発作が出現し、発作に対してLCMが有効だった。症例2:5歳1カ月男児。出生直後に易刺激性と焦点起始強直発作を呈した。3歳2カ月時に焦点起始の右偏向から両側強直間代に…
View article: Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans Open
ERI1 is a 3'-to-5' exoribonuclease involved in RNA metabolic pathways including 5.8S rRNA processing and turnover of histone mRNAs. Its biological and medical significance remain unclear. Here, we uncover a phenotypic dichotomy associated …
View article: Single-exon deletions of<i>ZNRF3</i>exon 2 cause congenital adrenal hypoplasia
Single-exon deletions of<i>ZNRF3</i>exon 2 cause congenital adrenal hypoplasia Open
Primary adrenal insufficiency (PAI) is a life-threatening condition characterized by the inability of the adrenal cortex to produce sufficient steroid hormones. E3 ubiquitin protein ligase zinc and ring finger 3 (ZNRF3) is a negative regul…
View article: Identification of Methylsulochrin as a Partial Agonist for Aryl Hydrocarbon Receptors and Its Antiviral and Anti-inflammatory Activities
Identification of Methylsulochrin as a Partial Agonist for Aryl Hydrocarbon Receptors and Its Antiviral and Anti-inflammatory Activities Open
Although aryl hydrocarbon receptors (AhRs) are related to the metabolic pathway of xenobiotics, recent studies have revealed that this receptor is also associated with the life cycle of viruses and inflammatory reactions. For example, flut…
View article: Potential Anti-Mpox Virus Activity of Atovaquone, Mefloquine, and Molnupiravir, and Their Potential Use as Treatments
Potential Anti-Mpox Virus Activity of Atovaquone, Mefloquine, and Molnupiravir, and Their Potential Use as Treatments Open
Background Mpox virus (MPXV) is a zoonotic orthopoxvirus and caused an outbreak in 2022. Although tecovirimat and brincidofovir are approved as anti-smallpox drugs, their effects in mpox patients have not been well documented. In this stud…
View article: Relationship between high trait anxiety in 22q11.2 deletion syndrome and the difficulties in medical, welfare, and educational services
Relationship between high trait anxiety in 22q11.2 deletion syndrome and the difficulties in medical, welfare, and educational services Open
Aim The 22q11.2 deletion syndrome (22q11DS) is associated with a high prevalence of mental health comorbidities. However, not enough attention has been paid to the elevated prevalence of high trait anxiety that begins early in life and may…
View article: Antiviral Activity of Micafungin and Its Derivatives against SARS-CoV-2 RNA Replication
Antiviral Activity of Micafungin and Its Derivatives against SARS-CoV-2 RNA Replication Open
Echinocandin antifungal drugs, including micafungin, anidulafungin, and caspofungin, have been recently reported to exhibit antiviral effects against various viruses such as flavivirus, alphavirus, and coronavirus. In this study, we focuse…
View article: DNA methylation signature in<i>NSD2</i>loss-of-function variants appeared similar to that in Wolf-Hirschhorn syndrome
DNA methylation signature in<i>NSD2</i>loss-of-function variants appeared similar to that in Wolf-Hirschhorn syndrome Open
Purpose Wolf-Hirschhorn syndrome (WHS), a contiguous gene syndrome caused by the hemizygous deletion of the distal short arm of chromosome 4 where NSD2 is, reportedly exhibits specific DNA methylation signatures in peripheral blood cells. …
View article: Supplementary Material for: A Small-for-Gestational-Age Infant with MIRAGE Syndrome Who Developed Heat Stroke and Rhabdomyolysis due to Severe Temperature Instability
Supplementary Material for: A Small-for-Gestational-Age Infant with MIRAGE Syndrome Who Developed Heat Stroke and Rhabdomyolysis due to Severe Temperature Instability Open
MIRAGE syndrome is characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. This report describes heat stroke and rhabdomyolysis caused by anhidrosis as a symptom of MIRAGE…
View article: Identification of inosine monophosphate dehydrogenase as a potential target for anti-monkeypox virus agents
Identification of inosine monophosphate dehydrogenase as a potential target for anti-monkeypox virus agents Open
Monkeypox virus (MPXV) is a neglected zoonotic pathogen that caused a worldwide outbreak in May 2022. Given the lack of an established therapy, the development of an anti-MPXV strategy is of vital importance. To identify drug targets for t…
View article: Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)
Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG) Open
View article: Survey on experiences and attitudes of parents toward disclosing information to children with genetic syndromes and their siblings in Japan
Survey on experiences and attitudes of parents toward disclosing information to children with genetic syndromes and their siblings in Japan Open
Many parents face the dilemma of when, how, and what to disclose to their children regarding their genetic conditions. The purpose of this study was to learn about the experiences of parents regarding disclosing information to their childr…
View article: Potential anti-monkeypox virus activity of atovaquone, mefloquine, and molnupiravir, and their potential use as treatments
Potential anti-monkeypox virus activity of atovaquone, mefloquine, and molnupiravir, and their potential use as treatments Open
Monkeypox virus (MPXV) is a zoonotic orthopoxvirus that causes smallpox-like symptoms in humans and caused an outbreak in May 2022 that led the WHO to declare global health emergency. In this study, from a screening of approved-drug librar…
View article: Different efficacies of neutralizing antibodies and antiviral drugs on SARS-CoV-2 Omicron subvariants, BA.1 and BA.2
Different efficacies of neutralizing antibodies and antiviral drugs on SARS-CoV-2 Omicron subvariants, BA.1 and BA.2 Open
View article: Back Cover, Volume 43, Issue 7
Back Cover, Volume 43, Issue 7 Open
Back Cover: The cover image is based on the Research Article Phenotypic and mutational spectrum of ROR2-related Robinow syndrome by Juliana Forte Mazzeu de Araujo et al., https://doi.org/10.1002/humu.24375.
View article: Identification of Disease Gene for Camurati-Engelmann Disease, Type II
Identification of Disease Gene for Camurati-Engelmann Disease, Type II Open
View article: Phenotypic and mutational spectrum of <i>ROR2</i> ‐related Robinow syndrome
Phenotypic and mutational spectrum of <i>ROR2</i> ‐related Robinow syndrome Open
Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate-limb short stature, and genital hypoplasia. A significant degree of phenotypic variability seems to correlate with different genes/loci. Disturbanc…
View article: iPSC reprogramming-mediated aneuploidy correction in autosomal trisomy syndromes
iPSC reprogramming-mediated aneuploidy correction in autosomal trisomy syndromes Open
Trisomy 21, 18, and 13 are the major autosomal aneuploidy disorders in humans. They are mostly derived from chromosome non-disjunction in maternal meiosis, and the extra trisomic chromosome can cause several congenital malformations. Vario…
View article: Synthesis and Antiviral Activities of Neoechinulin B and Its Derivatives
Synthesis and Antiviral Activities of Neoechinulin B and Its Derivatives Open
We have previously reported that neoechinulin B (1a), a prenylated indole diketopiperazine alkaloid, shows antiviral activities against hepatitis C virus (HCV) via the inactivation of the liver X receptors (LXRs) and the resultant d…
View article: A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder
A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder Open
View article: Survey On Disclosing Information To Children With Genetic Conditions And Their Siblings In Japan
Survey On Disclosing Information To Children With Genetic Conditions And Their Siblings In Japan Open
Many parents face the dilemma of when, how, and what to disclose to their children regarding their genetic conditions. The purpose of this study was to learn about the experiences of parents regarding disclosing information to their childr…
View article: Hypoplasia of abdominal wall muscles following massive fetal persistent chylous ascites without anemia
Hypoplasia of abdominal wall muscles following massive fetal persistent chylous ascites without anemia Open
Abdominal wall hypoplasia is a widely known clinical finding of genetic disorders such as the prune belly syndrome. On the other hand, there are few cases of abdominal wall muscle hypoplasia associated with fetal ascites due to fetal hydro…