Results 181 to 190 of about 30,148 (224)

Methods for multiancestry genome‐wide association study meta‐analysis

Annals of Human Genetics, EarlyView.
Abstract Genome‐wide association studies (GWAS) have significantly enhanced our understanding of the genetic basis of complex diseases. Despite the technological advancements, gaps in our understanding remain, partly due to small effect sizes and inadequate coverage of genetic variation.
Chuan Fu Yap, Andrew P. Morris
wiley   +1 more source

The molecular basis of lactase persistence: Linking genetics and epigenetics

Annals of Human Genetics, EarlyView.
Abstract Lactase persistence (LP) — the genetic trait that determines the continued expression of the enzyme lactase into adulthood — has undergone recent, rapid positive selection since the advent of animal domestication and dairying in some human populations.
Céleste E. Cohen, Dallas M. Swallow, Catherine Walker   +2 more
wiley   +1 more source

Genetic Determinants of the Familial Hypercholesterolaemia Phenotype

Annals of Human Genetics, EarlyView.
ABSTRACT Individuals with familial hypercholesterolaemia (FH) have severely elevated plasma concentrations of low‐density lipoprotein cholesterol (LDL‐C) from birth and as a consequence have an elevated morbidity and mortality due to the development of coronary heart disease (CHD).
Steve Eric Humphries, Marta Futema
wiley   +1 more source

Opportunities and Challenges of Population Pharmacogenomics

Annals of Human Genetics, EarlyView.
ABSTRACT Pharmacological responses can vary significantly among patients from different ethnogeographic backgrounds. This variability can, at least in part, be attributed to population‐specific genetic patterns in genes involved in drug absorption, distribution, metabolism, and excretion, as well as in genes associated with drug‐induced toxicity ...
Yitian Zhou, Yoomi Park, Mahamadou D. Camara, Volker M. Lauschke   +3 more
wiley   +1 more source

Familial Frontal Fibrosing Alopecia Occurs Early in Daughters With Affected Mothers: A Case Report and a Review of the Literature

Australasian Journal of Dermatology, EarlyView.
ABSTRACT Frontal fibrosing alopecia (FFA) is a form of cicatricial alopecia that is being increasingly diagnosed in recent years. It predominantly affects post‐menopausal women of various ethnic backgrounds, but cases have also been reported in pre‐menopausal women and rarely in men.
Adrienne Oxenham, Annabel Stevenson
wiley   +1 more source

Celiac Disease Course of Eritrean Asylum‐Seeker Children Living in Israel Compared to Native Israeli Children

Acta Paediatrica, EarlyView.
ABSTRACT Aim The adherence to a gluten‐free diet (GFD) in celiac disease (CD) is influenced by socioeconomic factors and language barriers, which are especially relevant to minority populations. The study aimed to compare CD outcomes in children of Eritrean asylum seekers living in Israel to those of native Israeli children.
Ittai Many, Achiya Amir, Amir Ben‐Tov, Hadar Moran Lev, Adi Anafy, Shlomi Cohen, Anat Yerushalmy‐Feler   +6 more
wiley   +1 more source

Human amyotrophic lateral sclerosis/motor neuron disease: The disease‐associated microglial pathway is upregulated while APOE genotype governs risk and survival

Brain Pathology, EarlyView.
ALS/MND‐related inflammation is investigated in the motor cortex and spinal cord by both transcriptomics and immunohistochemistry. This reveals greater inflammation in the spinal cord and highlights the disease‐associated microglial (DAM) phenotype characterized by ApoE, TREM2, and TYROBP.
Bridget A. Ashford, Julie E. Simpson, Charlotte Dawson, Delphine Boche, Johnathan Cooper‐Knock, Paul R. Heath, Daniel Fillingham, Charlie Appleby‐Mallinder, Wenbin Wei, Mark Dunning, J. Robin Highley   +10 more
wiley   +1 more source

Lactase haplotype frequencies in Caucasians: association with the lactase persistence/non‐persistence polymorphism [PDF]

, 1998
Clare B. Harvey, Edward J. Hollox, Mark Poulter, Yupei Wang, Mauro Rossi, Salvatore Auricchio, Tahira Iqbal, Brian T. Cooper, R Barton, M. Sarner, Riitta Korpela, Dallas M. Swallow   +11 more
openalex   +1 more source

Diversity of U1 Small Nuclear RNAs and Diagnostic Methods for Their Mutations

Cancer Science, EarlyView.
Complex interindividual U1 snRNA diversity was unveiled. Mutations in such complex loci were precisely detected with a pangenome graph reference, which enhances the possibility of the human pangenome reference in cancer genomics. ABSTRACT U1 small nuclear RNA (snRNA) mutations are recurrent non‐coding alterations found in various malignancies, yet ...
Takuma Nakashima, Tsubasa Miyauchi, Ryota Takeuchi, Yuriko Sugihara, Yusuke Funakoshi, Fumiharu Ohka, Sachi Maeda, Junko Hirato, Takako Yoshioka, Hajime Okita, Yoshitaka Narita, Yonehiro Kanemura, Yasuhiro Kojima, Yuko Watanabe, Ryuta Saito, Hiromichi Suzuki   +15 more
wiley   +1 more source

Molecular Characterization of the Maize Rp1-D Rust Resistance Haplotype and Its Mutants [PDF]

, 1999
Nicholas C. Collins, Jeff Drake, Michael Ayliffe, Qing Sun, Jeff Ellis, Scot H. Hulbert, Tony Pryor   +6 more
openalex   +1 more source