July 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers found that the efflux of calcium in root hairs of Arabidopsis thaliana, particularly through the ER-localized ACA2 and ACA7, is crucial for modulating cytoplasmic calcium signals and enabling proper root hair growth, with disruptions leading to impaired elongation.
11 citations
,
September 2021 in “American Journal of Medical Genetics Part A” This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.
58 citations
,
February 2013 in “Journal of Biological Chemistry” This study identifies specific molecular components involved in the intracellular trafficking of LGR5, revealing mechanisms that differ from typical GPCR recycling processes.
6 citations
,
June 2012 in “PloS one” This study identified a novel SCF mRNA splice variant in white merino sheep skin, which may play a role in hair follicle melanogenesis.
12 citations
,
December 2003 in “Gene” This study characterized the Hoxc-13 gene from sheep wool follicles, noting its potential autoregulatory role and potential influence on skin function beyond hair keratin regulation.
37 citations
,
October 2006 in “Archives of Biochemistry and Biophysics” This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.
24 citations
,
April 2013 in “PLOS ONE” This study identifies substance P, TNFα, and IFNγ as novel regulators of prolactin and its receptor expression in human skin, suggesting intracutaneous prolactin is not controlled by dopamine.
11 citations
,
April 2022 in “Biophysical Journal” In this study, certain cysteine residues in Romney sheep wool fibers were labeled more often during stretching tests, particularly under wet conditions, suggesting variability in their disulfide bond contributions to fiber mechanics depending on hydration.
1 citations
,
February 2025 in “Journal of Dairy Science” In this study, researchers found that the SLICK1 allele in cattle may alter local immune regulation, hair growth, and tissue remodeling, as indicated by differential gene expression pathways associated with immune and inflammatory responses in slick vs. nonslick Holsteins.
March 2026 in “Cell Death Discovery” In this comprehensive review, researchers examine the p63 gene's crucial role in skin development and pathology, highlighting its regulation of cell processes and its potential therapeutic implications for disorders like ectodermal dysplasia.
May 2024 in “International Journal of Cosmetic Science” This review highlights that hair's chemical bonds, particularly disulfide bonds, are not homogeneous, as previously thought, but instead vary in response to different cosmetic treatments, suggesting a need for further exploration of ionic bonds and hydrophobic interactions.
19 citations
,
January 2019 in “Animals” This study suggests that PDGFA and BMP2 play a role in the hair follicle cycle in cashmere goats, with PDGFA particularly involved in activating the growth phase.
3 citations
,
July 2024 in “Journal of Vascular Diseases” This review compiles existing research on ischemia-modified albumin (IMA) as a biomarker for myocardial ischemia, highlighting current gaps in understanding its formation and detection, with no new clinical results reported.
215 citations
,
September 2003 in “Journal of Biological Chemistry” This study found that the hairless gene product (Hr) suppresses VDR-mediated gene activation by directly interacting with the vitamin D receptor, potentially affecting hair follicle function.
119 citations
,
November 2016 in “American journal of human genetics” This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.
62 citations
,
October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
21 citations
,
May 2024 in “American Journal of Medical Genetics Part A” This study observed that among patients with Myhre syndrome, those with the SMAD4 gene variant p.Arg496Cys experienced fewer symptoms like hearing loss, while those with the p.Ile500Thr variant often had severe aortic hypoplasia, highlighting the diverse symptom progression and genetic factors of this rare condition.
21 citations
,
September 2003 in “Journal of Clinical Investigation” This paper reports that noggin inhibits BMP-2 and BMP-4 functions by binding and blocking their interaction with the BMP receptor, impacting multiple developmental processes without presenting new research results.
15 citations
,
April 2017 in “Hormones” This review discusses the roles of glucocorticoids and glucocorticoid receptors, and it explores potential genetic and non-genetic causes of glucocorticoid resistance or hypersensitivity syndromes, reporting no new clinical results.
15 citations
,
April 2016 in “Hormones” This review summarizes the clinical features and molecular causes of Primary Generalized Glucocorticoid Resistance, highlighting new findings from the characterization of mutations in the NR3C1 gene, but reports no new experimental results.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” This study reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.
7 citations
,
January 2023 in “Journal of Hematology & Oncology” This review discusses how targeting protein degradation processes may help overcome cancer drug resistance, but reports no new clinical results and suggests further research for precise therapeutic strategies.
7 citations
,
January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study shows that NIPP1 deficiency in mouse epidermis leads to hyperproliferation, hair loss, and chronic skin inflammation, which can be partially alleviated by dexamethasone treatment.
6 citations
,
September 2023 in “Experimental physiology” In this study, researchers identified the PLD-mGluR protein in primary mechanosensory terminals as the homomeric GluK2 kainate receptor, functioning purely metabotropically, which is suggested to be common to various sensory endings.
148 citations
,
May 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mice lacking the vitamin D receptor (VDR) developed skin tumors more rapidly than those with normal VDR activity, regardless of 1,25-dihydroxyvitamin D(3) presence.
69 citations
,
January 2021 in “Journal of Biological Chemistry” This review discusses various amino acid-derived plant defensive compounds and highlights their potential as drug leads due to their potent antimicrobial properties, but reports no new experimental results.
34 citations
,
July 2020 in “American journal of human genetics” This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.
1 citations
,
November 2005 in “Journal of Andrology” This meeting abstract details various lectures and workshops from the 30th Annual Meeting of the American Society of Andrology, including findings on genetic and physiological factors affecting male fertility, but reports no new clinical results.
May 2026 in “Journal of Assisted Reproduction and Genetics” In this study, researchers developed and tested a novel peptide, AMHR2BP, which mimics the function of Anti-Müllerian hormone to protect ovarian follicles in mice, showing promise for preserving ovarian health during chemotherapy without causing toxicity.
78 citations
,
November 2005 in “Endocrinology” This study found that Hairless (Hr) acts as a corepressor of the vitamin D receptor (VDR) in human keratinocytes, blocking the action of vitamin D on keratinocyte differentiation.