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G protein–coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth
TLDR
This study is the first to implicate a G protein–coupled receptor as essential for and specific to the maintenance of human hair growth, and may provide opportunities for new therapeutic approaches to the treatment of hair loss in humans.
The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease
TLDR
Depression in myotonic dystrophies might be a reactive adjustment disorder rather than a direct consequence of structural brain damage, and associations of white matter affection with age/disease duration as well as patterns of cerebral water diffusion parameters pointed towards an ongoing process of myelin destruction and/or axonal loss.
Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.
TLDR
The identification of loss-of-function mutations in the keratin 5 gene (KRT5) in all affected family members and in six unrelated patients with DDD suggest a crucial role for keratins in the organization of cell adhesion, melanosome uptake, organelle transport, and nuclear anchorage.
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
TLDR
Genome-wide linkage analysis has identified an RMD locus on chromosome 3p25 and found missense mutations in positional candidate CAV3 (encoding caveolin 3; ref. 5) in all five families analyzed.
IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.
TLDR
The findings indicate that the phenotypic expression of IFAP syndrome is quantitatively related to a reduced function of a key cellular regulatory system affecting cholesterol homeostasis and ability to cope with ER stress.
Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci
TLDR
The first meta-analysis in AA is performed by combining data from two genome-wide association studies (GWAS), and replication with supplemented ImmunoChip data for a total of 3,253 cases and 7,543 controls, finding new molecular pathways disrupted in AA that support the causal role of aberrant immune processes in AA.
Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia.
TLDR
It is demonstrated that genetic variability in the androgen receptor gene (AR) is the cardinal prerequisite for the development of early-onset AGA, with an etiological fraction of 0.46 and a polyglycine-encoding GGN repeat in exon 1 is a plausible candidate for conferring the functional effect.
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin
TLDR
Nonsense mutations in the gene CDSN (encoding corneodesmosin) are identified in three families suffering from hypotrichosis simplex of the scalp (HSS; OMIM 146520), suggesting that CDSn is important in normal scalp hair physiology.
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
TLDR
The data suggest that MSH3 mutations represent an additional recessive subtype of colorectal adenomatous polyposis, and potentially causative variants in 14 more candidate genes identified in 26 other individuals require further workup.
Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
TLDR
Interestingly, both POGLUT1 and POFUT1 are essential regulators of Notch activity, and the results emphasize the important role of the Notch pathway in pigmentation and keratinocyte morphology.
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