Results 161 to 170 of about 47,155 (269)

Identification of Novel Mutation in the ABCA12 Gene Causing Harlequin Ichthyosis

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Harlequin ichthyosis (HI) is an uncommon and extremely severe hereditary condition that primarily affects the skin. Infants born with this disorder display dense skin and prominent diamond‐shaped plates that cover a significant portion of their bodies.
Nadia Soltani, Zahra Bayati, Mohsen Soosanabadi, Akbar Zamani, Asghar Lotfi, Milad Gholami   +5 more
wiley   +1 more source

Correction: Tokusanai et al. Prunus mume Extract Inhibits SARS-CoV-2 and Influenza Virus Infection In Vitro by Directly Targeting Viral Particles. Int. J. Mol. Sci. 2025, 26, 8487. [PDF]

Int J Mol Sci
Tokusanai M, Tateishi K, Hirata K, Fukunishi N, Suzuki Y, Kono R, Natsumi S, Kato C, Takekoshi S, Okuno Y, Utsunomiya H, Yamamoto N.   +11 more
europepmc   +1 more source

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf–Yang Syndrome and the Importance of Paternal Allele Confirmation

Journal of Clinical Laboratory Analysis, Volume 40, Issue 3, February 2026.
This study reports a de novo MAGEL2 pathogenic variant in a patient with Schaaf–Yang syndrome, confirmed through methylation‐sensitive analysis. Combining genomic sequencing with methylation assays helps accurately determine the parental origin of MAGEL2 mutations.
Youn‐Ji Hong, Misun Yang, Hyeon Jeong Kwon, Jooyoung Cha, Ja‐Hyun Jang, Sung Eun Wang, Eun Sun Lee, Mi‐Ae Jang   +7 more
wiley   +1 more source

Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel. [PDF]

Front Endocrinol (Lausanne)
Veneziano C, Parrotta J, Lico D, Santamaria G, Antonucci G, De Angelis MT, Zullo F, Viglietto G, De Marco C, Venturella R.   +9 more
europepmc   +1 more source

Novel HUWE1‐Related Neurodevelopmental Disorder: Genotypic and Phenotypic Expansion

International Journal of Developmental Neuroscience, Volume 86, Issue 1, February 2026.
This study highlights novel HUWE1 variants that expand the genetic and clinical spectrum of neurodevelopmental disorders, establishing the essential role of the HECT domain in disease mechanism. ABSTRACT Background The HUWE1 gene plays a crucial role in mediating embryonic development as well as the differentiation and proliferation of neural cells ...
Yanyan Dai, Jerry Zhang, Dandan Wu, Ran Chen, Rong Li   +4 more
wiley   +1 more source

Germline mutational landscape in a large cohort of Indian breast cancer. [PDF]

BMC Cancer
Peter J, Jolly B, Raha R, Jothi J, Chakraborty A, Raman SG, Radhakrishnan S, Sivasubbu S, Scaria V, Mahalingam S.   +9 more
europepmc   +1 more source

Estimation of PM2·5-associated disease burden in China in 2020 and 2030 using population and air quality scenarios: a modelling study.

Lancet Planetary Health, 2019
Qing Wang, Jiaonan Wang, Jinhui Zhou, J. Ban, Tiantian Li   +4 more
semanticscholar   +1 more source

Chronic Granulomatous Disease: Clinical and Molecular Characterization of Brazilian Patients

The Journal of Gene Medicine, Volume 28, Issue 2, February 2026.
Chronic granulomatous disease is a rare inborn error of immunity characterized by the deficient production of reactive oxygen species in phagocytes, which are used in pathogen elimination. Affected individuals become susceptible to severe infections.
Leonardo Martinello da Rosa, Martha Braun da Rosa, Mariana de Sampaio Leite Jobim Wilson, Ida Vanessa Doederlein Schwartz, Fernanda Sperb‐Ludwig   +4 more
wiley   +1 more source

Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants. [PDF]

Mol Syndromol
Ates K, Ozturk M, Esener Z, Dogan M, Gezdirici A, Sarac H, Yeninarcilar B, Fettahlioglu A, Camtosun E, Dundar I, Güngör S, Ozgor B, Tekedereli I.   +12 more
europepmc   +1 more source

Identification of a Novel Missense Homozygous Variant in LINS1 in Two Distinct Iranian Families With Consanguineous Marriage

Molecular Genetics &Genomic Medicine, Volume 14, Issue 2, February 2026.
A novel homozygous missense variant in LINS1 (c.1354G>C; p.Ala452Pro) was identified in two consanguineous families with autosomal recessive intellectual disability, supporting the gene's role in neurodevelopment and its relevance in genetic diagnosis and counseling of ARID. Reported pathogenic LINS1 variants.
Elham Alimoradi, Parham Nejati, Arash Salmaninejad, Nafiseh Falsafi, Fatemeh Molavi, Mohamad Javad Alibakhshi, Filippo Pinto e Vairo, Eric W. Klee, Reza Alibakhshi   +8 more
wiley   +1 more source