60 citations
,
July 2014 in “Autophagy” The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
11 citations
,
January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
91 citations
,
July 2004 in “Journal of Biological Chemistry” Overexpressing SSAT enzyme reduces prostate tumor growth in mice.
8 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
15 citations
,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
66 citations
,
August 2007 in “Applied and environmental microbiology” The engineered yeast strain BLYAS can quickly and sensitively detect androgenic chemicals.
June 2010 in “Melanoma research” LDE225 is a promising skin-applied treatment for basal cell carcinoma with good skin penetration and effectiveness.
December 2010 in “OhioLink ETD Center (Ohio Library and Information Network)” Sry may regulate fatty acid metabolism and shows different expression levels in rat tissues.
44 citations
,
January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
4 citations
,
January 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
3 citations
,
February 2019 in “Animal biotechnology” The PLP2 gene affects cashmere fiber quality in goats and is linked to hair growth and loss.
January 2009 in “Xumu shouyi xuebao” Sheep cells were successfully modified to include a spider silk protein gene.
43 citations
,
February 1999 in “Biochemical Journal” Overexpression of SSAT in mice causes hair loss, liver damage, and sensitivity to polyamine analogues.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
13 citations
,
March 1999 in “Biochemical Journal” Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.
13 citations
,
June 2014 in “Molecular therapy” The lentiviral array can monitor and predict gene activity during stem cell differentiation.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
113 citations
,
June 2010 in “Biological Chemistry” Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
19 citations
,
February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
17 citations
,
October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
10 citations
,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
75 citations
,
July 2016 in “New phytologist” The protein RSL4 is crucial for making root hairs longer by controlling genes related to cell growth.
1 citations
,
January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
March 2021 in “Research Square (Research Square)” The SbbHLH85 protein helps sweet sorghum grow more root hairs but makes the plant more sensitive to salt.
February 2024 in “Plant Cell Reports” AtVPS29 is essential for proper plant growth by regulating gibberellin signaling.
1 citations
,
December 2022 in “Plants” CSLD1 suppresses rice root hair growth with NH4+ and regulates AMT1;2 expression.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
4 citations
,
December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
The study identified a key protein involved in producing underarm odor and found ways to inhibit it.