The Histone H3K27 Demethylase UTX Regulates Synaptic Plasticity and Cognitive Behaviors in Mice by Gang-Bin Tang, Yu-Qiang Zeng, Pei-Pei Liu, Pei-Pei Liu, Ting-Wei Mi, Shuang-Feng Zhang, Shuang-Feng Zhang, Shang-Kun Dai, Shang-Kun Dai, Qing-Yuan Tang, Qing-Yuan Tang, Lin Yang, Ya-Jie Xu, Ya-Jie Xu, Hai-Liang Yan, Hong-Zhen Du, Zhao-Qian Teng, Zhao-Qian Teng, Feng-Quan Zhou, Feng-Quan Zhou, Chang-Mei Liu, Chang-Mei Liu

“…Mutation of Utx has recently been shown to be associated with Kabuki syndrome, a rare congenital anomaly syndrome with dementia. …”
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Genetic syndromes and skeletal dysplasia associated with short stature – A case series by Divya Agarwal, I P S. Kochar, Vineet Bhushan Gupta, Kriti Menon

“…The common genetic syndromes diagnosed included Noonan syndrome, Kabuki syndrome and common skeletal dysplasia diagnosed were achondroplasia and epiphyseal dysplasia. …”
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Fireflies in Art: Emphasis on Japanese Woodblock Prints from the Edo, Meiji, and Taishō Periods by Deirdre A. Prischmann-Voldseth

“…‘Beauties’, <i>geisha</i>, courtesans, <i>kabuki</i> actors, and insect vendors were also common subjects. …”
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KDM6A facilitates Xist upregulation at the onset of X inactivation by Josephine Lin, Jinli Zhang, Li Ma, He Fang, Rui Ma, Camille Groneck, Galina N. Filippova, Xinxian Deng, Chizuru Kinoshita, Jessica E. Young, Wenxiu Ma, Christine M. Disteche, Joel B. Berletch

“…KDM6A mutations have been implicated in congenital disorders such as Kabuki Syndrome, as well as in sex differences in development and cancer. …”
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Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations by Mehmet Gunduz, Ozlem Unal

“…Clinical findings and developmental prognosis vary in PEX1 gene mutation. Kabuki-like phenotype associated with liver pathology may indicate Zellweger spectrum disorders (ZSD).…”
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KDM6A missense variants hamper H3 histone demethylation in lung squamous cell carcinoma by Tommaso Biagini, Francesco Petrizzelli, Salvatore Daniele Bianco, Niccolò Liorni, Alessandro Napoli, Stefano Castellana, Angelo Luigi Vescovi, Massimo Carella, Viviana Caputo, Tommaso Mazza

“…KDM6A is the disease causative gene of type 2 Kabuki Syndrome, a rare multisystem disease; it is also a known cancer driver gene, with multiple somatic mutations found in a few cancer types. …”
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What’s new in genetics of congenital heart defects by Maria Cristina Digilio, Bruno Marino

“…Molecular techniques as whole exome sequancing has lead to the identification of new genes for monogenic syndromes with CHD, as for example in Adams-Oliver, Noonan and Kabuki syndrome. The variable expressivity and reduced penetrance of CHDs in genetic syndromes is likely influenced by genetic factors, and several studies have been performed showing the involvement of modifier genes. …”
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The Villainous Pontianak? Examining Gender, Culture and Power in Malaysian Horror Films by Lee, Yuen Beng

“…Cross cultural influences across borders are common in shaping each other’s culture and a number of Malaysian horror films have been influenced by the Noh and Kabuki-influenced ‘shunen’ (revenge) and ‘kaidan’ (ghost mystery) stories. …”
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CRISPR/Cas9 genome editing clinical trials for neurodevelopmental disorders by B. Abdelmoula, N. Bouayed Abdelmoula

“…The first study aimed to investigate the pathological role of KMT2D mutations in 40 Kabuki syndrome patients in order to facilitate the identification and characterization of therapeutic strategies to improve symptoms, to identify the consequences of KMT2D mutations on epigenetic marker changes and cellular structural changes and to finally attempt gene correction by CRISPR/Cas9. …”
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Congenital hyperinsulinism in the Ukraine: a 10-year national study by Evgenia Globa, Henrik Thybo Christesen, Michael Bau Mortensen, Jayne A. L. Houghton, Anne Lerberg Nielsen, Sönke Detlefsen, Sarah E. Flanagan

“…Pathogenic variants in the K-ATP channel genes were the only identified genetic cause of p-CHI (ABCC8 (n=17) and KCNJ11 (n=2)) with greater genetic heterogeneity observed in those with er-CHI (ABCC8 (n=3), KMT2D (Kabuki Syndrome, n=1), Beckwith-Wiedemann syndrome (n=2) and INSR (Donohue syndrome (n=2)). …”
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Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation by Teresa Romeo Luperchio, Leandros Boukas, Li Zhang, Genay Pilarowski, Jenny Jiang, Allison Kalinousky, Kasper D Hansen, Hans T Bjornsson

“…To identify such shared alterations, we interrogate chromatin (ATAC-seq) and expression (RNA-seq) states in B cells from three MDEM mouse models (Kabuki [KS] type 1 and 2 and Rubinstein-Taybi type 1 [RT1] syndromes). …”
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Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods by Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin, Yanling Yang

“…After whole-exome sequencing, nine diseases were confirmed in these patients: Angelman syndrome and Krabbe disease in case 1, Citrin deficiency and Kabuki syndrome in case 2, Homocysteinemia type 2 and Copy number variant in case 3, Isolated methylmalonic acidemia and Niemann-Pick disease type B in case 4, Isolated methylmalonic acidemia and 21-hydroxylase deficiency in case 5. …”
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MLL4 regulates postnatal palate growth and midpalatal suture development by Jung-Mi Lee, Hunmin Jung, Bruno de Paula Machado Pasqua, Yungki Park, Qinghuang Tang, Shin Jeon, Shin Jeon, Soo-Kyung Lee, Jae W. Lee, Hyuk-Jae Edward Kwon

“…Mutations in the MLL4 gene are the major cause of Kabuki syndrome, a human developmental disorder that involves craniofacial birth defects, including anomalies in the palate. …”
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Structural bioinformatics enhances the interpretation of somatic mutations in KDM6A found in human cancers by Young-In Chi, Timothy J. Stodola, Thiago M. De Assuncao, Elise N. Leverence, Brian C. Smith, Brian F. Volkman, Angela J. Mathison, Gwen Lomberk, Michael T. Zimmermann, Raul Urrutia

“…The histone demethylase KDM6A has recently elicited significant attention because its mutations are associated with a rare congenital disorder (Kabuki syndrome) and various types of human cancers. …”
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OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additio... by Estelle Colin, Estelle Colin, Yannis Duffourd, Yannis Duffourd, Emilie Tisserant, Raissa Relator, Ange-Line Bruel, Ange-Line Bruel, Frédéric Tran Mau-Them, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Anne-Sophie Denommé-Pichon, Hana Safraou, Hana Safraou, Julian Delanne, Julian Delanne, Nolwenn Jean-Marçais, Boris Keren, Bertrand Isidor, Marie Vincent, Cyril Mignot, Cyril Mignot, Delphine Heron, Alexandra Afenjar, Solveig Heide, Anne Faudet, Perrine Charles, Sylvie Odent, Sylvie Odent, Yvan Herenger, Arthur Sorlin, Sébastien Moutton, Jennifer Kerkhof, Haley McConkey, Martin Chevarin, Martin Chevarin, Charlotte Poë, Charlotte Poë, Victor Couturier, Victor Couturier, Valentin Bourgeois, Valentin Bourgeois, Patrick Callier, Anne Boland, Robert Olaso, Robert Olaso, Christophe Philippe, Christophe Philippe, Bekim Sadikovic, Bekim Sadikovic, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Laurence Faivre, Laurence Faivre, Jean-François Deleuze, Jean-François Deleuze, Antonio Vitobello, Antonio Vitobello

“…Finally, DNA methylation analysis confirmed one diagnosis identified by genome sequencing (Kabuki syndrome) and identified an episignature compatible with a BAFopathy in a patient with a clinical diagnosis of Coffin-Siris with negative genome and RNA-seq results in blood.Conclusion: Overall, our integrated genome, transcriptome, and DNA methylation analysis solved 10/30 (33.3%) cases and identified a strong candidate gene in 4/30 (13.3%) of the patients with rare neurodevelopmental disorders and negative exome sequencing results.…”
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Association between experience of emotional violence and hypertension among Kenyan women by Joshua Okyere, Castro Ayebeng, Abigail Kabukie Dosoo, Kwamena Sekyi Dickson

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Cervical cancer screening among women with comorbidities: evidence from the 2022 Tanzania demographic and health survey by Joshua Okyere, Castro Ayebeng, Abigail Kabukie Dosoo, Kwamena Sekyi Dickson

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Hormonal contraceptive use among women living with hypertension in sub-Saharan Africa: insights from 12 countries by Joshua Okyere, Richard Gyan Aboagye, Castro Ayebeng, Abigail Kabukie Dosoo, Samuel Salu, Kwamena Sekyi Dickson

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Dynamics of violence disclosure among women in Kenya: trends, changes and associated factors by Joshua Okyere, Abigail Kabukie Dosoo, Castro Ayebeng, Kwamena Sekyi Dickson

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