Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India by Inusha Panigrahi, Sudha Rao, Shalu Verma Kumar, Divya Kumari, Parminder Kaur

“…A confirmatory diagnosis is facilitated by genetic testing like chromosomal microarray and next generation sequencing. …”
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INTERNALIZATION OF EXOGENOUS DNA INTO INTERIOR COMPARTMENTS OF MURINE BONE MARROW CELLS by E. V. Dolgova, V. P. Nicolin, N. A. Popova, A. S. Proskurina, K. E. Orishchenko, E. A. Alyamkina, Y. R. Efremov, E. R. Chernykh, A. A. Ostanin, E. M. Malkova, O. S. Taranov, V. A. Rogachev, S. V. Sidorov, S. S. Bogachev, M. A. Shurdov

“…Moreover, fragments localizedin BMCnuclei are suggestedto integrate into chromosome(s) ofrecipient mouse genomes when treatedwithCP andexogenous DNA.…”
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Dandy-Walker Syndrome. Case Report and Literature Review by William Ernesto González Águila, Osiris Intento García, Nilda Beatriz Cortizo Martínez

“…Genetic predisposition associated with malformations and chromosomal alterations has been suggested. The diagnosis can be carried out during the prenatal or postnatal stage, clinically and diagnostic imaging studies. …”
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Molecular landscape of lung cancer: insights into therapeutic targets and clinical outcomes by Saloni Mangal, Abhijit Debnath, Rupa Mazumder, Avijit Mazumder, Rajesh Kumar Singh, Jahanvi Sanchitra, S.K. Asif Jan, Pratibha Pandey, Bimlesh Kumar, Anil Kumar Singh

“…Genetic mutations, chromosomal abnormalities, transcription factors, mutations in tumor suppressor genes, and mutations in oncogenes have all been associated with an increased risk of LC development. …”
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Simultaneous Bilateral Spontaneous Pneumothorax Revealed Birt-Hogg-Dubè Syndrome by Alessandro Tamburrini, Francesco Sellitri, Federico Tacconi, Francesco Brancati, Tommaso Claudio Mineo

“…In this case, we firstly report the concurrence of these rare conditions, as a patient presenting a simultaneous bilateral spontaneous pneumothorax was diagnosed with Birt-Hogg-Dubè syndrome based on the typical radiological findings and genetic testing of the folliculin gene located on chromosome 17.…”
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Orthodontic Treatment and Maxillary Anterior Segmental Distraction Osteogenesis of a Subject with Williams–Beuren Syndrome and Isolated Cleft Palate: A Long-Term Follow-Up from the... by Tetsutaro Yamaguchi, Tatsuo Shirota, Mohamed Adel, Masahiro Takahashi, Shugo Haga, Ryo Nagahama, Misato Nakashima, Mayu Furuhata, Takaaki Kamatani, Koutaro Maki

“…Williams–Beuren syndrome (WBS) is a rare multisystem disorder caused by a hemizygous deletion of the elastin gene on chromosome 7q11.23. WBS patients have characteristic skeletal features and dental anomalies accompanied by mental retardation, a friendly outgoing personality, and mild to moderate intellectual disability or learning problems. …”
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Long-Term Effects of “Yer Malhami” Fertilizer: A Study on its Impact and Effectiveness by Sherkuzieva Guzal, Salomova Feruza

“…The results showed no significant disturbances in reproductive cycles or spermatogenesis, and chromosomal aberration tests showed no mutagenic effects. …”
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Jacobsen syndrome associated with Shone’s complex: a case report by Andressa Brum, Larissa Valéria Laskoski, Fabiana Gonçalves de Oliveira Azevedo Matos, Luciana Paula Grégio d’Arce

“…Comments: Jacobsen syndrome occurs due to a deletion of contiguous genes on the long arm of chromosome 11 (11q). The main characteristics associated with this genetic disorder are short stature and delayed neuropsychomotor development, trigonocephaly and craniofacial dysmorphism, hematological alterations, and cardiac malformations, among others. …”
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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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Congenital Absence of a Teat in a Japanese Black Heifer by Mohamed Elshabrawy Ghanem, Toshihiko Nakao, Chikako Yoshida

“…The heifer had normal chromosomal set. The heifer was culled due to its mammary abnormality. …”
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Early Renal Involvement in a Girl with Classic Fabry Disease by Fernando Perretta, Norberto Antongiovanni, Sebastián Jaurretche

“…Organic involvement in men is well known, but in women it is controversial, mainly due to the random X-chromosome inactivation in each of their cells (Lyon hypothesis). …”
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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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Understanding the Pathogenesis of Angelman Syndrome through Animal Models by Nihar Ranjan Jana

“…The disease is primarily caused by deletion or loss-of-function mutations of the maternally inherited UBE3A gene located within chromosome 15q11-q13. The UBE3A gene encodes a 100 kDa protein that functions as ubiquitin ligase and transcriptional coactivator. …”
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Acral Melanoma: A Review of Its Pathogenesis, Progression, and Management by Soo Hyun Kim, Hensin Tsao

“…Recent advances in genomic, transcriptomic, and epigenomic sequencing have revealed genetic alterations unique to acral melanoma, including novel driver genes, high copy number variations, and complex chromosomal rearrangements. This review synthesizes the current knowledge on the clinical features, epidemiology, and treatment approaches for acral melanoma, with a focus on the genetic pathogenesis that gives rise to its unique tumor landscape. …”
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Fast and accurate deep learning scans for signatures of natural selection in genomes using FASTER-NN by Sjoerd van den Belt, Nikolaos Alachiotis

“…As a result, execution time is invariant to the sample size and the chromosome length, creating a highly suitable solution for large-scale, whole-genome scans. …”
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Role of ARMS2/HTRA1 risk alleles in the pathogenesis of neovascular age-related macular degeneration by Yang Pan, Takeshi Iwata

“…Genome-wide association studies (GWAS) have strongly supported the link between ARMS2/HTRA1 locus on chromosome 10q26 and AMD development, encompassing multiple variants, rs10490924 (c.205G > T, p.A69S in ARMS2), insertion/deletion (del443/ins54 in ARMS2), and rs11200638 (in HTRA1 promoter region). …”
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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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Comparative peculiarities of genomic diversity in <i>Gallus gallus domesticus</i> chickens with decorative plumage: the muffs and beard phenotype by N. V. Dementieva, Y. S. Shcherbakov, A. E. Ryabova, A. B. Vakhrameev, A. V. Makarova, O. A. Nikolaeva, A. P. Dysin, A. I. Azovtseva, N. R. Reinbah, O. V. Mitrofanova

“…If the HOXB8 gene is located between 3.402 and 3.404 Mb on chromosome GGA27, homozygous regions are rarely found in the chickens with the muffs and beard phenotype. …”
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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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Feline Neural Progenitor Cells I: Long-Term Expansion under Defined Culture Conditions by Jing Yang, Jinmei Wang, Ping Gu, X. Joann You, Henry Klassen

“…Importantly, later passage cNPCs did not develop chromosomal aberrations.…”
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