Results 61 to 70 of about 3,450 (166)

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

open access: yesPregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld   +5 more
wiley   +1 more source

Generation cycles in experimental populations of a multivoltine insect

open access: yesJournal of Animal Ecology, Volume 95, Issue 5, Page 782-794, May 2026.
Although theory suggests various mechanisms by which environmental and ecological factors may drive generational fluctuations, our field‐cage experiment is the first to demonstrate how internal dynamics and external disturbances jointly produce synchronised, large‐scale outbreak cycles.
Takehiko Yamanaka   +3 more
wiley   +1 more source

Increased HA/CD44/TGFβ signaling implicates in renal fibrosis of a Col4a5 mutant Alport mice

open access: yesMolecular Medicine
X-linked Alport syndrome (XLAS) caused by X-linked COL4A5 gene mutation is a hereditary disease that affects mainly the kidney. XLAS patients, especially males whose single copy of the COL4A5 gene is disrupted, suffer from a life-threatening renal ...
Yantao Bao   +8 more
doaj   +1 more source

Genotype and Outcome After Kidney Transplantation in Alport Syndrome

open access: yesKidney International Reports, 2018
Introduction: Alport syndrome (AS) is caused by mutations in α3/α4/α5 (IV) collagen genes, the severity of which determine the progression of AS.
Valentine Gillion   +10 more
doaj   +1 more source

Large mammal recovery in the wake of human population decline

open access: yesJournal of Applied Ecology, Volume 63, Issue 5, May 2026.
Human depopulation, particularly in rural areas, has contributed to the recovery of some large mammal populations. While recovery is generally good news for conservation, it can also lead to human‐wildlife conflict. We present several avenues to maximize coexistence in the face of further rural depopulation in other places. Read the free Plain Language
Alex J. Jensen   +4 more
wiley   +1 more source

毛囊COL4A5基因扩增的方法学研究

open access: yesZhongguo shiyan zhenduanxue, 2007
目的探讨毛囊基因组在COL4A5基因扩增中的应用。方法对32例慢性肾病患者和12例健康体检者进行毛囊和全血COL4A5基因扩增,产物测序,比较两者扩增产物,并将测序结果与NCBI公布的标准序列进行比对。结果毛囊与全血COL4A5基因扩增产物长短一致,测序结果与NCBI公布的COL4A5基因标准序列完全相符,且扩增效率无显著性差异(P>0.05)。结论毛囊COL4A5基因扩增效果与全血等同。
刘奇才   +3 more
doaj  

The NM_033380.2 transcript of the COL4A5 gene contains a variable splice site c.4822–10T>C, which has been identified as a causative factor for Alport syndrome

open access: yesFrontiers in Genetics
Alport Syndrome (AS) is a genetic kidney disorder characterized by progressive hearing loss and atypical eye symptoms, resulting in a poor prognosis and lack of effective targeted therapy.
Lei Liang, Haotian Wu, Jianrong Zhao
doaj   +1 more source

Atypical Cadherin Fat2 is Involved in Axogenesis of Cerebellar Granule Cells in Zebrafish

open access: yesDevelopment, Growth &Differentiation, Volume 68, Issue 4-5, May‐June 2026.
Granule cells are the most abundant neurons in the vertebrate brain. The atypical cadherin gene fat2 is specifically expressed in cerebellar granule cells. In wild‐type zebrafish larvae, granule cells in the caudolateral cerebellum project their axons straight to Purkinje cells (PCs) and further extend them caudally to innervate crest cells (Crs ...
Jui Chun Wang   +6 more
wiley   +1 more source

MyGene2 automated match report: COL4A5

open access: yes, 2016
MyGene2.org is free, public, searchable & browsable website. Families with rare genetic conditions, clinicians, and researchers families who are interested in sharing health and genetic information can create MyGene2 profiles and use these to connect with other families, clinicians, and researchers who may have or be studying the same condition. If
openaire   +1 more source

Extracellular Matrix Origin Directs Morphogenesis and Gene Regulation in Bioengineered Human Skin

open access: yesAdvanced Healthcare Materials, Volume 15, Issue 15, 17 April 2026.
Fibroblast‐driven production of endogenous extracellular matrix is shown to be essential for guiding transcriptional programs and morphogenesis in biofabricated human skin equivalents. Constructs relying on native, cell‐produced ECM support physiological dermo‐epidermal junction formation and tissue architecture, whereas exogenous matrices promote ...
Francesco Galardo   +7 more
wiley   +1 more source

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