Nutrition, Other Environmental Influences, and Genetics in the Determination of Human Stature

JC Lui, AC Palmer, P Christian - Annual Review of Nutrition, 2024 - annualreviews.org
Linear growth during three distinct stages of life determines attained stature in adulthood:
namely, in utero, early postnatal life, and puberty and the adolescent period. Individual host …

Promising horizons in achondroplasia along with the development of new drugs

K Ozono, T Kubota, T Michigami - Endocrine Journal, 2024 - jstage.jst.go.jp
Achondroplasia (ACH) is a representative skeletal disorder characterized by rhizomelic
shortened limbs and short stature. ACH is classified as belonging to the fibroblast growth …

[HTML][HTML] The importance of functional genomics studies in precision rheumatology

AP Piedade, J Butler, S Eyre, G Orozco - Best Practice & Research Clinical …, 2024 - Elsevier
Rheumatic diseases, those that affect the musculoskeletal system, cause significant
morbidity. Among risk factors of these diseases is a significant genetic component. Recent …

Growth disorders caused by variants in epigenetic regulators: progress and prospects

JC Lui - Frontiers in Endocrinology, 2024 - frontiersin.org
Epigenetic modifications play an important role in regulation of transcription and gene
expression. The molecular machinery governing epigenetic modifications, also known as …

Genetics of skeletal proportions in two different populations

E Bartell, K Lin, K Tsuo, W Gan, S Vedantam, JB Cole… - bioRxiv, 2023 - biorxiv.org
Human height can be divided into sitting height and leg length, reflecting growth of different
parts of the skeleton whose relative proportions are captured by the ratio of sitting to total …

Pooled genetic screens identify breast cancer risk genes involved in evasion from T cell-mediated killing

W Shi, Y Luo, JM Burrows, D Black, A Civitarese… - bioRxiv, 2024 - biorxiv.org
Genome-wide association studies have identified more than 220 loci associated with breast
cancer susceptibility. A major challenge is now to identify the effector genes with plausible …

Genetic instrumental variable framework for assessing relevance of in-vitro cellular phenotypes to organism-level phenotypes

LJ Howe, Y Aulchenko, A Cortes, J Esparza Gordillo… - bioRxiv, 2024 - biorxiv.org
Gene perturbation screens (eg CRISPR-Cas9) assess the impact of gene disruption on
cellular phenotypes (eg, proliferation, anti-viral response, transcriptomics). Cellular …

Davranışsal ve Sosyal Genomikte Nasıl Bir Nedensellik Kavramına İhtiyacımız Var?

G Akbay - Temaşa Erciyes Üniversitesi Felsefe Bölümü Dergisi, 2024 - dergipark.org.tr
In this paper, we will examine the properties of the concept of causality that best reflects how
genes exert their effects in fields such as behavioral genetics and sociogenomics. First …

Identification of Genes Involved in Proinsulin Processing and Secretion

VA Parsons - 2024 - search.proquest.com
Abstract Type 2 diabetes (T2D) affects~ 500 million individuals worldwide and is projected to
rise 46% by 2045. Patient care is complicated by T2D's heterogeneous nature and …

Polygenic Architecture of Human Body Size and Proportion

ER Bartell - 2023 - search.proquest.com
Over the last 15 years, genome-wide association studies (GWAS) have discovered
thousands of genetic associations with human phenotypes. However, as most of these …