14 citations
,
December 2001 in “Journal of autoimmunity” This study found that immunity to self-prion peptides could be induced in Lewis rats, but in older rats, it was associated with severe skin inflammation and hair loss.
This study demonstrated that de novo designed bifunctional proteins can target and degrade BCL-xL, leading to cell apoptosis, suggesting a new approach to targeted protein degradation therapy.
1 citations
,
August 2019 in “Journal of Investigative Dermatology” PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
2 citations
,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This article discusses the MendelVar webserver, which integrates Mendelian disease data with GWAS findings to prioritize candidate genes for complex traits and reports no new experimental results.
12 citations
,
July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
January 2023 in “Pesquisa Veterinária Brasileira” This study reports that hypotrichosis congenita in Hereford cattle is associated with a KRT71 mutation, leading to color dilution follicular dysplasia.
34 citations
,
April 2012 in “Molecular Biology Reports” This study isolated a thermophilic bacterial strain, Bacillus cereus, from soil that produces an extracellular protease; the enzyme effectively removed non-leather structures from animal pelts and was compatible with commercial detergents.
July 2020 in “European urology open science” Methylated gene parts may cause finasteride-resistance in some enlarged prostate patients.
2 citations
,
August 2016 in “Journal of Investigative Dermatology”
3 citations
,
January 2008 in “Endocrine journal” In this case report, the authors describe a partial androgen insensitivity syndrome patient with a novel AR gene mutation, highlighting challenges in gender assignment decisions for infants with partial AIS.
60 citations
,
March 2006 in “Journal of Medical Genetics” This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.
48 citations
,
April 2008 in “Human Molecular Genetics” This study found that although progerin expression in mouse skin causes significant nuclear shape changes in keratinocytes, it does not result in alopecia or common skin abnormalities seen in human Hutchinson–Gilford progeria syndrome.
7 citations
,
June 2016 in “Bone Research” In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.
38 citations
,
January 2020 in “Cell Transplantation” This study found that ACE2 and TMPRSS2 genes were more highly expressed in tumors of elderly male cancer patients compared to healthy individuals, with notable differences across age and gender.
This study found that simultaneous inactivation of pRb and p53 genes in mice's epidermis accelerates aggressive squamous cell carcinoma development, highlighting p53 as a key tumor suppressor.
1 citations
,
May 2011 in “Molecular Medicine Reports” This study found no association between the -866G/A polymorphism in the UCP2 gene and the development of polycystic ovary syndrome.
92 citations
,
January 2012 in “International Journal of Biological Sciences” This article proposes an updated naming system for keratin-associated proteins and genes, aiming to improve data storage and retrieval by including species information and genetic variation.
15 citations
,
September 2002 in “Journal of Biological Chemistry” This study observed that transgenic mice expressing keratin K10 under bovine K6beta control developed severe oral abnormalities, suggesting keratin composition changes can affect the physiology of epithelial cells, especially in the oral mucosa.
10 citations
,
October 2000 in “PubMed” This study found that transgenic mice expressing HPV E6/E7 in the outer root sheath experience continuous hair follicle cycling due to delayed catagen entrance and insensitivity to telogen resting signals.
1 citations
,
December 2015 in “Balkan Journal of Medical Genetics” This study found no significant difference in the prevalence of CYP21A2 mutations between couples with unexplained fertility problems and healthy controls, but identified an association between the c.290-13A/C>G mutation and clinical issues like hormone deviations and polycystic ovary syndrome.
This study explored a mother and daughter with loose anagen hair syndrome linked to wooly hair, identifying an intronic variant in the KRT71 gene that affects hair keratin splicing, thus broadening the spectrum of KRT71-related disorders.
24 citations
,
July 2014 in “Journal of Investigative Dermatology” This study reports that a widespread founder SERPINB7 mutation underlies Nagashima-type palmoplantar keratosis, which is a common form of palmoplantar keratosis in Asian populations.
6 citations
,
January 2010 in “Neoplasma” In this study, researchers found that shorter CA repeats in the ERbeta gene are correlated with PSA expression, and PSA immunoexpression is associated with increased disease-free survival in breast cancer.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.
35 citations
,
July 2010 in “The FEBS journal” In this study, researchers identified a highly reactive, isozyme-specific sequence for TGase 3, contributing to understanding its distinct functional role and activity distribution in the mouse epidermis.
84 citations
,
December 2018 in “Genetics in Medicine” This article reviews evidence- and consensus-based recommendations for using pegvaliase in adults with PKU and reports no new clinical results.
5 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.
1 citations
,
February 1991 in “Journal of Biological Chemistry”
9 citations
,
August 2013 in “PLOS ONE” This study validated that the 20p11 genetic locus is associated with increased risk of androgenic alopecia in the Chinese Han population, suggesting shared genetic factors between Chinese and European populations.
40 citations
,
June 2013 in “Scientific Reports” This study found an association between a splice site variant in the KRT71 gene and curly hair in Selkirk Rex cats, identifying a significant locus on chromosome B4.