Results 121 to 130 of about 43,307 (224)

A novel homozygous <i>ARFGEF2</i> splice-site variant causing periventricular nodular heterotopia with microcephaly. [PDF]

Front Pediatr
Liu X, Pang L, Li J, Zhang J, Wu W, Li X, Gong Y, Dou Y, Chen F, Sun S.   +9 more
europepmc   +1 more source

p.Gly693Arg Homozygote Mutation in Dubin-Johnson Syndrome with Atypical Liver Biopsy due to Reactivation of Hepatitis B Concomitant with Persistent Loss of Kidney Function

Acta Medica Indonesiana
Dubin-Johnson syndrome is a rare genetic disease that causes impaired transport of bilirubin. In most cases, there will be no symptoms. However, some people might develop jaundice due to certain conditions.
Juferdy Kurniawan
doaj  

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, Volume 110, Issue 1, Page 64-72, July 2026.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Multiplex CRISPR/Cas9-mediated editing of seven glycosyltransferase homologs in <i>Nicotiana benthamiana</i> to produce stable, Cas9-free, glycoengineered plants. [PDF]

Front Plant Sci
Kaur C, Song H, Lee M, Kim SY, Seo DH, Kang H, Sohn EJ, Ran Y, Koo O, Lee GJ.   +9 more
europepmc   +1 more source

Genomic Analysis of Inbreeding Depression on Productive Traits in Rubia Galega Beef Cattle Breed

Journal of Animal Breeding and Genetics, Volume 143, Issue 4, Page 508-523, July 2026.
ABSTRACT In autochthonous livestock breeds with small populations, such as the Rubia Galega from Galicia (Spain), mating between relatives is common and can lead to inbreeding depression. Genomic inbreeding coefficients were estimated for 4984 animals using ~63,000 SNPs to assess inbreeding depression in four key traits: age at first calving (AFC) with
N. Mejuto‐Vázquez, C. Hervás‐Rivero, R. Rodríguez‐Bermúdez, D. López‐Carbonell, M. Hermida, P. Martínez, L. Varona   +6 more
wiley   +1 more source

<i>KRAS</i> Gene Variants rs712 and rs61764370 as Predictive Markers of Breast Cancer Susceptibility in a Bangladeshi Population: A Case-Control Study. [PDF]

Health Sci Rep
Eva TA, Miti MMT, Nisha NZ, Tasnim Z, Saha T, Khan M, Moon NT, Haque MA.   +7 more
europepmc   +1 more source

Use of Cluster Analysis for Identifying Metafounders

Journal of Animal Breeding and Genetics, Volume 143, Issue 4, Page 535-559, July 2026.
ABSTRACT In the metafounder approach, the relationship matrix of metafounders, Γ is used to transfer information on relationships between pedigree founders into the numerator relationship matrix A, creating matrix AΓ. Commonly metafounders are defined based on the available information of the animal (e.g., country, sex, breed) similar to unknown parent
Christine Anglhuber, Christian Edel, Eduardo C. G. Pimentel, Reiner Emmerling, Kay‐Uwe Götz, Georg Thaller   +5 more
wiley   +1 more source

Lecanemab and amyloid-related imaging abnormalities: Real-world data from a single center experience. [PDF]

Alzheimers Dement (Amst)
Wallace A, Zhou O, Hoang MN, Porter G, Padilla C, Marshall C.   +5 more
europepmc   +1 more source

Contributions of selenoproteins to breast cancer etiology and racial disparity. [PDF]

Cancer Causes Control
Bera S, Liu L, Ma W, Xu Z, Sverdlov M, Deaton R, Macias V, Valyi-Nagy K, Kajdacsy-Balla A, Hoskins K, Wiley EL, Kastrati I, Diamond AM.   +12 more
europepmc   +1 more source

Exploring the Relationship Between MDM4 Gene Polymorphisms (rs1380576 and rs4245739) and Breast Cancer Susceptibility in Bangladesh: A Case-Control Study. [PDF]

J Clin Lab Anal
Islam JMA, Ahamed S, Islam S, Hossain MM, Hossain MS, Mostaid MS, Islam MR, Haque MA.   +7 more
europepmc   +1 more source