Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study by Klára Veres, Benedek Nagy, Zsófia Ember, Judit Bene, Kinga Hadzsiev, Márta Medvecz, László Szabó, Zsuzsanna Zsófia Szalai

“…<b>Background:</b> Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder caused by pathogenic variants in the <i>NF1</i> gene. …”
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Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet–Biedl Syndrome by Li Huang, Limei Sun, Zhirong Wang, Songshan Li, Chonglin Chen, Xiaoling Luo, Xiaoyan Ding

“…Bardet–Biedl syndrome (BBS) is a rare multisystem developmental disorder. In this study, we report the genetic causes and clinical manifestations in two Chinese families with BBS. …”
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Study on Lesion Assessment of Cerebello-Thalamo-Cortical Network in Wilson’s Disease with Diffusion Tensor Imaging by Anqin Wang, Hongli Wu, Chunsheng Xu, Lanfeng Tang, Jaeyoun Lee, Min Wang, Man Jiang, Chuanfu Li, Qi Lu, Chunyun Zhang

“…Wilson’s disease (WD) is a genetic disorder of copper metabolism with pathological copper accumulation in the brain and any other tissues. …”
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Effectiveness of implementation of sickle cell disease referral guidelines and other measures in paediatric department at a tertiary hospital in Saudi Arabia by Muhammad Matloob Alam, Abdulrhman Alathaibi, Hamdan Alghamdi, Jean Barrientos De Asis, Reynan Bautista, Mansour Aladwani, Mustafa Mohamed Selim

“…Background Sickle cell disease (SCD) is an autosomal recessive genetic blood disorder. It affects up to 2.6% of the Kingdom of Saudi Arabia population.Local problem The paediatric haematology/oncology (PHO) team noticed that 75% of paediatric patients were inappropriately referred to the PHO department. …”
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Clinically meaningful improvements after gene therapy for aromatic L-amino acid decarboxylase deficiency (AADCd) in the Peabody Developmental Motor Scale, Second Edition (PDMS-2) a... by Wuh-Liang Hwu, Hui-Min Lee, John Devin Peipert, Rongrong Zhang, Christian Werner, J. Rafael Sierra, Thomas O’Connell, Jonathan J. Woolley, Marjorie Crowell, Antonia Wang, Ioannis Tomazos

“…Abstract Background Aromatic L-amino acid decarboxylase deficiency (AADCd) is a rare genetic disorder characterized by movement disorders, motor and autonomic dysfunction, and developmental delays. …”
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Genome-wide association study unravels mechanisms of brain glymphatic activity by Shu-Yi Huang, Yi-Jun Ge, Peng Ren, Bang-Sheng Wu, Weikang Gong, Jing Du, Shi-Dong Chen, Ju-Jiao Kang, Qing Ma, Arun L. W. Bokde, Sylvane Desrivières, Hugh Garavan, Antoine Grigis, Herve Lemaitre, Michael N. Smolka, Sarah Hohmann, IMAGEN Consortium, Jian-Feng Feng, Ya-Ru Zhang, Wei Cheng, Jin-Tai Yu

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Personalization of thiopurine therapy: Current recommendations and future perspectives by Urbančič Dunja, Pasha Flaka, Šmid Alenka, Mlinarič-Raščan Irena

“…In addition, the article takes a critical look at emerging research in the field of thiopurine pharmaco genomics featuring novel genetic markers and technological developments in genetic testing. …”
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Analysis of Amelogenin and Sex-determining Region on Y Chromosome Genes Obtained from Pulpal Tissue for Sex Estimation by using Multiplex Polymerase Chain Reaction by Mohammed Taha Ahmed Baban, Dena Nadhim Mohammad, Natheer Al-Rawi

“…Nevertheless, the amplification of both of these genes encounters limitations in determining sex, primarily due to deletions observed in certain racial groups and the influence of genetic disorders on these genes. This research aims to assess the precision of simultaneously amplifying both genes using multiplex polymerase chain reaction on samples derived from teeth that have been subjected to various forensic conditions. …”
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Novel t(5;19) Translocation in a Patient with PDGFRB Associated Chronic Leukemia: Implications for Treatment Strategy by Joel D. Provenzano, J. Phillip Kuebler

“…Myeloproliferative disorders are variable disorders, based on the genetic abnormality present and the cell line progenitors that are affected. …”
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Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome by P. C. Johannesma, R. J. A. van Moorselaar, S. Horenblas, L. E. van der Kolk, E. Thunnissen, J. H. T. M. van Waesberghe, F. H. Menko, P. E. Postmus

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The Role of FRMD7 in Idiopathic Infantile Nystagmus by Rachel J. Watkins, Mervyn G. Thomas, Chris J. Talbot, Irene Gottlob, Sue Shackleton

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Transvestism Recognized in Ehlers-Danlos Syndrome: Report of Two Cases by Hiroki Ishiguro, Naomi Honobe, Takefumi Suzuki, Mariko Tamai, Takaya Nakane

“…We report on detailed psychosocial data to further discuss the medical management and genetic counseling of such infrequent but challenging conditions. …”
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Diagnostics and treatment of cardiac achalasia and cardiospasm: guidelines of the Russian gastroenterological association by V. T. Ivashkin, A. S. Trukhmanov, E. A. Godzhello, I. V. Mayev, Yu. V. Evsyutina, T. L. Lapina, O. A. Storonova

“…Cardiac achalasia is primary esophageal motor function disorder manifested by impaired lower esophageal sphincter relaxation and defects of thoracic esophagus peristalsis. …”
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Targeting of retrovirus-derived Rtl8a/8b causes late-onset obesity, reduced social response and increased apathy-like behaviour by Yoshifumi Fujioka, Hirosuke Shiura, Masayuki Ishii, Ryuichi Ono, Tsutomu Endo, Hiroshi Kiyonari, Yoshikazu Hirate, Hikaru Ito, Masami Kanai-Azuma, Takashi Kohda, Tomoko Kaneko-Ishino, Fumitoshi Ishino

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High clinical burden of classical homocystinuria in the United States: a retrospective analysis by Mahim Jain, Mehul Shah, Kamlesh M. Thakker, Andrew Rava, Agnes Pelts Block, Colette Ndiba-Markey, Lionel Pinto

“…Abstract Background Classical homocystinuria (HCU) is a rare genetic metabolic disorder resulting in elevated homocysteine and methionine levels. …”
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A scoping review on the obstacles faced by beta thalassemia major patients in Pakistan- Matter of policy investment by Ali Hussain Ansari, Saqib Hussain Ansari, Mubarak Jabeen Salman, Muhammad Usman Hussain Ansari, Rawshan Jabeen

“…Beta-thalassemia major (β-TM) is a genetic disorder, prevalent especially in the Mediterranean region, Southeast Asia, and the Indian subcontinent. …”
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CD2AP deficiency aggravates Alzheimer’s disease phenotypes and pathology through p38 MAPK activation by Yan-Yan Xue, Zhe-Sheng Zhang, Rong-Rong Lin, Hui-Fen Huang, Ke-Qing Zhu, Dian-Fu Chen, Zhi-Ying Wu, Qing-Qing Tao

“…Abstract Background Alzheimer’s disease (AD) is the most common form of neurodegenerative disorder, which is characterized by a decline in cognitive abilities. …”
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Relationship between personality traits and spontaneous coronary artery dissection risk: evidence from Mendelian randomization by Kun Zheng, Kun Zheng, Mengdi Wu, Junhua Wang, Junhua Wang, Jinjin Sun, Yuqian Li, Peng Wang, Zhiyue Zhang, Xiuming Pan, Yifeng Yang, Tianqi Li, Yujie Guo

“…Despite the elusive nature of its etiology, empirical evidence indicates a substantial correlation between sociopsychological factors and the disorder. This investigation endeavored to discern a genetic basis for personality traits influencing SCAD susceptibility.MethodsBidirectional univariate and multivariate Mendelian randomization (MR) analyses were hereby conducted to investigate the putative causal nexus between personality dimensions and SCAD risk. …”
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Searching for new genes associated with the familial hypercholesterolemia phenotype using whole-genome sequencing and machine learning by D. E. Ivanoshchuk, A. B. Kolker, O. V. Timoshchenko, S. E. Semaev, E. V. Shakhtshneider

“…One of the most common congenital metabolic disorders is familial hypercholesterolemia. Familial hyper-cholesterolemia is a condition caused by a type of genetic defect leading to a decreased rate of removal of low-density lipoproteins from the bloodstream and a pronounced increase in the blood level of total cholesterol. …”
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Generation of a human induced pluripotent stem cell (iPSC) line ERPLi004-A from an Alpha-1 antitrypsin deficiency (AATD) patient with SERPINA1 mutation by Harshini Surendran, Rajani Battu, Renjitha Gopurappilly, Chethala N. Vishnuprasad, Rajarshi Pal

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