Results 141 to 150 of about 17,949 (246)

Multifactorial Predictors of Renal Outcomes in Alport Syndrome: Integrating Genetic, Clinical, and Cystic Phenotypes. [PDF]

Kidney Med
Song ZR, Li Y, Liu ZY, Li MS, Chen YQ, Lv JC, Zhou XJ, Zhang H.   +7 more
europepmc   +1 more source

Delay in Diagnosis of Classical Homocystinuria

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Classical homocystinuria (HCU) is an autosomal recessive disorder of methionine metabolism with a wide spectrum of severity and clinical presentation. Timely diagnosis facilitates prompt initiation of treatment, which reduces complications. Our aim was to identify the nature of the first clinical manifestation and time to subsequent diagnosis ...
Subadra Wanninayake, Reena Sharma, Diane Green, John Bassett, Tarekegn Geberhiwot, Charlotte Dawson   +5 more
wiley   +1 more source

Conversation with Future Clinical Cytogeneticists: The New Frontiers. [PDF]

Genes (Basel)
Ye JC, Chowdhury R, Heng HH.
europepmc   +1 more source

Pregnancy in Lysinuric Protein Intolerance Complicated by Immune Dysregulation and Severe Thrombocytopenia

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Lysinuric protein intolerance (LPI) is a rare disorder of dibasic amino acid transport associated with secondary urea cycle defects and immune dysregulation. Pregnancy in LPI is seldom reported and presents significant management challenges.
Eamon P. McCarron, Melanie Hill, Adam Lomas, Victoria Elliott, Emma Walkinshaw, Tessa Bonnett, Kar‐Ping Kuet, Rachel Tattersall, Claire Mapplebeck   +8 more
wiley   +1 more source

The Impact of Genetic Factors in Ménière's Disease. [PDF]

Int J Mol Sci
Iațentiuc IM, Frăsinariu OE, Iațentiuc A, Dima-Cozma LC, Olariu R, Rădulescu LM, Miron IC, Stârcea IM, Gavrilovici C, Ghiciuc CM, Necula V, Cozma SR, Bitere-Popa OR.   +12 more
europepmc   +1 more source

Epilepsy: Epidemiology, Molecular Pathogenesis, and Clinical Management

MedComm, Volume 7, Issue 7, July 2026.
Epilepsy is a heterogeneous and chronically evolving brain network disorder. This review integrates epidemiological burden, psychiatric comorbidities, and cyclic seizure patterns with multiscale pathogenic mechanisms, including ion‐channel dysfunction, synaptic transmission defects, neuroinflammation, metabolic and mitochondrial dysfunction, and ...
Jian Liu, Xinyan Wu, Ting Yin, Feining Huang, Manqi Kong, Yu Yang, Zinan Liu, Jiabin Yu, Tianpeng Zhang   +8 more
wiley   +1 more source

Revisiting Spontaneous Keloids: Aetiology, Genetics and Evidence for a Polygenic Pathogenesis. [PDF]

Wound Repair Regen
Budhiraja A, Shawa H, Mehta A, Dafinone M, Tchanque-Fossuo CN, Kiuru M, Dahle S, Isseroff R.   +7 more
europepmc   +1 more source

Hyaluronan (HA) Receptors: Discovery, Function & Pathology

Proteoglycan Research, Volume 4, Issue 3, July 2026.
ABSTRACT Hyaluronan (HA) is typically a long polymer of the repeating disaccharide, glucuronic acid‐β‐(1‐3)‐N‐acetylglucosamine polymerized by β(1‐4) bonds, with no obvious active site for biological activity. However, this dynamic polymer is vital for life in all metazoans and has a diverse array of functional characteristics due to the proteins that ...
Abby E. Bopp, Linda B. Pratt, Callan J. Schroder, Joseph D. Staab, Grant D. Hatcher, Joshua T. McWilliams, Michael C. Wilhelm, Ashley C. Texel, Edward N. Harris   +8 more
wiley   +1 more source

Dissecting genetic variant contributions to neurodegenerative disorders through targeted gene sequencing in a Sicilian population. [PDF]

Sci Rep
Treccarichi S, Papa C, Vinci M, Cosentino FII, Scalia G, Mostile G, Zappia M, Nicoletti A, Pennisi M, Musumeci A, Chiavetta V, Di Stefano V, Piccoli T, Blandino V, Tripodi M, Lanuzza B, Morreale M, Cupidi C, Ferri R, Lanza G, Cali F.   +20 more
europepmc   +1 more source

Horizontal Gene Transfer and Genome Rearrangements Shape Bacterial Adaptation for Bioremediation

Environmental Microbiology, Volume 28, Issue 7, July 2026.
Exposure to xenobiotics triggers genome evolution and horizontal gene transfer (HGT), driving the acquisition of novel catabolic functions. These genomic adaptations provide a competitive fitness advantage that reshapes microbial community structure and enhances biodegradation impact.
Zaki Saati‐Santamaría, Amando Flores, Inés Canosa, Paula García‐Fraile   +3 more
wiley   +1 more source