Results 121 to 130 of about 159,600 (311)

Uncoupling TGFβ1 signalling from collagen protein synthesis in Dupuytren's disease

The Journal of Pathology, EarlyView.
Abstract Dupuytren's disease is a fibroproliferative disorder of the palmer fascia (PF) characterised by flexion contractures in the hand. Dupuytren's disease can be treated surgically, but disease recurrence rates are high, potentially due to continual production of matrisomal proteins.
Gabriella Cooper, Jade A Gumbs, Sahem Alkharabsheh, Katie J Lee, Alan Carter, Hannah Coleman, Niamh S O'Heneghan‐Yates, Rama Ijaz, Emma Beamish, Lisa A Menezes, Triantafillos Liloglou, Peter D Clegg, Elizabeth G. Canty‐Laird   +12 more
wiley   +1 more source

Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche

Advanced Biomedical Research, 2016
Background: Congenital adrenal hyperplasia (CAH) due to mutations in the gene encoding 21-hydroxilase is one of common disease with an autosomal recessive form.
Mahsa Kolahdouz, Mahin Hashemipour, Hossein Khanahmad, Bahareh Rabbani, Mansoor Salehi, Ali Rabbani, Arman Ansari, Mona Mobalegh Naseri   +7 more
doaj   +1 more source

Ökologische und genetische Differenzierung von Daphnia-galeata-Populationen in Europa [PDF]

, 2005
Here I analyse 23 populations of D. galeata, a large-lake cladoceran, distributed mainly across the Palaearctic. I detected high levels of clonal diversity and population differentiation using variation at six microsatellite loci across Europe.
Dove, Outi Helena
core  

Fractal Characterizations of MAX Statistical Distribution in Genetic Association Studies

, 2009
Two non-integer parameters are defined for MAX statistics, which are maxima of $d$ simpler test statistics. The first parameter, $d_{MAX}$, is the fractional number of tests, representing the equivalent numbers of independent tests in MAX.
Azzalini A., Heisenberg W., Mao J., Press W. H., Sham P., Sokal R. K., Thomas D. C., Weir B. S.   +7 more
core   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

HARDY-WEINBERG EQUILIBRIUM ASSUMPTIONS IN CASE-CONTROL TESTS OF GENETIC ASSOCIATION [PDF]

, 2009
The case-control study design is commonly used in genetic association study with a binary trait using unrelated individuals from a population. To test association with a binary trait in a case-control or cohort study, the standard analysis is a chi ...
Lee, Myoungkeun
core  

Progressive cardiac involvement in a compound heterozygote Fabry patient: a case report [PDF]

, 2018
Eliza Jeanette McConnell, James Every, Michel Tchan, Rebecca Kozor   +3 more
openalex   +1 more source

Speciation with gene flow

PLANTS, PEOPLE, PLANET, EarlyView.
Biodiversity is threatened by human activities, with extinction debt accumulating rapidly. Many of these activities change the connectivity of populations, fragmenting existing population systems or bringing previously isolated populations or species into contact.
Zhiqin Long, Xu Zhang, Yue Yu, Gregory L. Owens, Diana J. Rennison, Clarisse Palma‐Silva, Daniel Ortiz‐Barrientos, Loren H. Rieseberg   +7 more
wiley   +1 more source

Various Sulfatase Activities in Leukocytes and Cultured Skin Fibroblasts from Heterozygotes for the Multiple Sulfatase Deficiency (Mukosulfatidosis) [PDF]

, 1983
Yoshikatsu Eto, Takahiro Tahara, T. Tokoro, Kihei Maekawa   +3 more
openalex   +1 more source

The influence of rare KLF1 gene mutations on fetal hemoglobin levels and their association with thalassemia

Guangxi Yike Daxue xuebao
Objective To study the influence of KLF1 gene mutations on fetal hemoglobin (Hb F) levels and their effects on thalassemia. Methods Cases undergoing thalassemia screening at the First Affiliated Hospital of Guangxi Medical University from March 2023 to ...
Zixuan CHAI, Hengying ZHU, Xuan XIAO, Ping CHEN   +3 more
doaj   +1 more source