4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay by Yukino Kawanami, Tomoko Horinouchi, Naoya Morisada, Takeshi Kato, Kandai Nozu

“…We encountered a case with congenital iris coloboma, omphalocele, and developmental delay with a 2.5 Mb deletion on chromosome 4q25 encompassing PITX2, leading to Axenfeld-Rieger syndrome (ARS), NEUROG2, and ANK2. …”
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Developmental Defects in Trisomy 21 and Mouse Models by Jean Maurice Delabar, Revital Aflalo-Rattenbac, Nicole Créau

“…Murine models are clearly the best tool for dissecting the phenotypic consequences of imbalances that affect single genes or chromosome segments. Embryos can be studied freely in mice, making murine models particularly useful for the characterization of developmental abnormalities. …”
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Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene by Teva Brender, Donna Wallerstein, John Sum, Robert Wallerstein

“…In addition to this, our patient has skewed X chromosome inactivation which adds to her presentation as her unaffected mother also carries the mutation.…”
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Identification of a New Variant in NLRP3 Gene by Whole Exome Sequencing in a Patient with Cryopyrin-Associated Periodic Syndrome by Mahdieh Vahedi, Nima Parvaneh, Saeedeh Vahedi, Mohammad Shahrooei, Vahid Ziaee

“…NLRP3 gene is located in chromosome 1 and encodes a pyrin-like protein. Mutations in this gene are associated with an autoinflammatory disease, called cryopyrin-associated periodic syndrome (CAPS). …”
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Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding by Julie Fischer, Luis Rohena

“…This case discusses a now 13-year-old boy who underwent chromosome analysis and fluorescence in situ hybridization (FISH) for subtelomeric rearrangements due to dysmorphic features at birth. …”
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The Genetics of PTPN1 and Obesity: Insights from Mouse Models of Tissue-Specific PTP1B Deficiency by Ryan C. Tsou, Kendra K. Bence

“…The PTP1B protein is encoded by the PTPN1 gene on human chromosome 20q13, a region that shows linkage with insulin resistance, type 2 diabetes, and obesity in human populations. …”
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The high-density lipoprotein binding protein HDLBP is an unusual RNA-binding protein with multiple roles in cancer and disease by Jonathan Feicht, Ralf-Peter Jansen

“…HDLBP is involved in various processes, including translation, chromosome segregation, cholesterol transport and carcinogenesis. …”
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Molecular Characterization of a Multidrug-Resistant Klebsiella pneumoniae Strain R46 Isolated from a Rabbit by Fei Wu, Yuanyuan Ying, Min Yin, Yi Jiang, Chongyang Wu, Changrui Qian, Qianqian Chen, Kai Shen, Cong Cheng, Licheng Zhu, Kewei Li, Teng Xu, Qiyu Bao, Junwan Lu

“…The K. pneumoniae R46 genome consisted of a chromosome and three resistance plasmids named pR46-27, pR46-42, and pR46-270, respectively. …”
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Molecular, Cytogenetic, and Hematological Analysis of Chronic Myeloid Leukemia Patients and Discovery of Two Novel Translocations by Muhammad Asif, Abrar Hussain, Abdul Wali, Nazeer Ahmed, Irfan Ali, Zafar Iqbal, Muhammad Amir, Muhammad Shafiq, Mahmood Rasool

“…Chronic myeloid leukemia (CML) is a disease of hematopoietic stem cells and is caused by the balanced translocations among the long arms of chromosomes 9 and 22, which are called the Philadelphia (Ph) chromosome. …”
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Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival by Anna Darlene van der Heiden, Raphaela Pensch, Sophie Agger, Heather L. Gardner, William Hendricks, Victoria Zismann, Shukmei Wong, Natalia Briones, Bryce Turner, Karin Forsberg-Nilsson, Cheryl London, Kerstin Lindblad-Toh, Maja Louise Arendt

“…The most prominent copy number gain occurred on chromosome 13, overlapping key oncogenes such as MYC and KIT, while the most frequent deletion was a focal loss on chromosome 26, encompassing IGL, PRAME, GNAZ, RAB36, RSPH14, and ZNF280B. …”
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Exploratory analysis of molecular traits of the mitochondrial DNA of leafcutting ants to infer taxonomic characters towards an integrative taxonomy by Perpetua Ndubuisi Onyinyechi, Natália Martins Travenzoli, Maykon Passos Cristiano, Danon Clemes Cardoso

“…The molecular features of the mitogenome segments, along with other traits such as chromosome number, karyotype features, molecular phylogeny, and morphological data can be used in an integrative framework to access biodiversity and purpose taxonomic hypothesis.…”
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Giant Warty Nevus with Cavernous Angioma Component. Case Presentation by María del Rosario Sánchez Hidalgo, Idalmis Valdés Madrigal, Eduardo Carlos Borges Sánchez

“…It is considered a hamartoma derived from the ectoderm, possibly caused by a chromosomal aberration located on the long arm of chromosome 1.The case of a 3 year-old male patient is presented, with a giant warty nevus with an angioma cavernous component in the occipital region, without other anomalies. …”
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Adropin: a key player in immune cell homeostasis and regulation of inflammation in several diseases by Junmin Wang, Ning Ding, Chong Chen, Simin Gu, Jing Liu, Yanping Wang, Liubing Lin, Yiyuan Zheng, Yong Li

“…Adropin is a secreted peptide encoded by the energy homeostasis-associated gene (ENHO), located chromosome 9p13.3, with a conserved amino acid sequence across humans and mice. …”
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An Efficient Genome Fragment Assembling Using GA with Neighborhood Aware Fitness Function by Satoko Kikuchi, Goutam Chakraborty

“…In the proposed GA, the length of the chromosome, which represents the volume of the search space, is reduced with advancing generations, and thereby improves search efficiency. …”
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Antioxidant Functions of Nitric Oxide Synthase in a Methicillin Sensitive Staphylococcus aureus by Manisha Vaish, Vineet K. Singh

“…However certain Gram positive bacteria including Staphylococcus aureus possess a gene encoding nitric oxide synthase (SaNOS) in their chromosome. In this study it was determined that under normal growth conditions, expression of SaNOS was highest during early exponential phase of the bacterial growth. …”
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Sacroiliitis and Polyarteritis Nodosa in a Patient with Familial Mediterranean Fever by Yunus Ugan, Atalay Doğru, Hüseyin Şencan, Mehmet Şahin, Şevket Ercan Tunç

“…The condition is known to be caused by mutations in the MEFV (Mediterranean FeVer) gene, located in the short arm of chromosome 16. While more than 310 sequence variants in the MEFV gene have been described to date, the diagnosis is still established clinically. …”
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A Case of Clitoral Hypertrophy of Unknown Origin by Tetsuya Okaneya, Kiyoshi Onishi, Michio Saze, Kei Iwakura, Hiroko Sakuma

“…Various tests were performed. Sex chromosome or hormonal abnormalities and tumorous lesions were not detected, and the ovaries, uterus, and vagina were normal, indicating that disorders of mullerian development were negative. …”
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HbS-Sicilian (δβ)0-Thalassemia: A Rare Variant of Sickle Cell by Grace Onimoe, Genine Smarzo

“…Sickle cell disease (SCD) is caused by a mutation in the sixth codon of the β-globin gene on chromosome 11, which leads to a single amino acid substitution (glutamine to valine). …”
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Trichoscopy in Unveiling the Triad of Netherton Syndrome by H Bangaru, D Ashwini

“…Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by the triad of congenital ichthyosiform erythroderma or ichthyosis linearis circumflexa (ILC), hair shaft abnormalities, and atopic diathesis (elevated serum IgE) caused by mutations in serine protease-inhibitor (SPINK5) gene located on chromosome 5q31–32. Here, we present a case of a 16-year-old female born to second-degree consanguineous marriage who presented with a history of atopy, generalized xerosis, plaques with serpiginous borders, and double-edged scales over the trunk, upper and lower limbs, lichenification in flexures, sparse eyelashes, and eyebrows predominantly over lateral half was noted. …”
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Cloning a Chloroplast Genome in Saccharomyces cerevisiae and Escherichia coli by Emma Walker, Bogumil Karas

“…Prior to our work, the chloroplast genomes of Chlamydomonas reinhardtii (204 kb) and Zea mays (140 kb) had been cloned using bacterial and yeast artificial chromosome (BAC/YAC) libraries, respectively. These methods lack design flexibility as they are reliant upon the random capture of genomic fragments during BAC/YAC library creation; additionally, both demonstrated a low efficiency (≤ 10%) for correct assembly of the genome in yeast. …”
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