research A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females
A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
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690-720 / 1000+ results research A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
research Co-expression of PADI isoforms during progenitor differentiation enables functional diversity
Different PADI isoforms help cells develop diverse functions.
research Expression of an Olfactomedin-Related Gene in Rat Hair Follicular Papilla Cells
FP-1 is a key protein in rat hair growth, active only during the growth phase.
research Overexpression of spermidine/spermine N1-acetyltransferase under the control of mouse metallothionein I promoter in transgenic mice: evidence for a striking post-transcriptional regulation of transgene expression by a polyamine analogue
Overexpression of SSAT in mice causes hair loss, liver damage, and sensitivity to polyamine analogues.
research 548 Deletion of Myelin Protein Zero-like 3 increases sebaceous gland size and sebocyte proliferation but reduces skin adipose depots: Can MPZL3 inhibition promote excessive loss of lipids via sebum hypersecretion?
Deleting MPZL3 increases skin oil production and reduces body fat.
research Both Retinoic Acid Receptors α (RARα) and γ (RARγ) Are Able to Initiate Mouse Upper-Lip Skin Glandular Metaplasia
research Pili Annulati
The patient's hair has unique structural differences with alternating bright and dark bands.
research Recessive Epidermolysis Bullosa Simplex Phenotype Reproduced in Vitro
Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
research Protoporphyrin IX: the Good, the Bad, and the Ugly
Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
research EGFR Controls Hair Shaft Differentiation in a p53-Independent Manner
EGFR helps control how hair grows and forms without needing p53 protein.
research The effects of sonic, desert and Indian hedgehog signalling in skin
Shh and Dhh affect skin development and can cause tumors, while Ihh does not.
research Roles of jumonji and jumonji family genes in chromatin regulation and development
Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin
A specific gene mutation causes different hair defects in Indian monilethrix families.
research 481 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic changes in specific proteins contribute to hair loss in some women of African descent.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research Establishment of Tsc2-deficient rat embryonic stem cells
Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
research Absence of vitamin D receptor (VDR)‐mediated PPARγ suppression causes alopecia in VDR‐null mice
Lack of vitamin D receptor causes hair loss in mice by allowing certain genes to overactivate.
research Hairless protein of Jumonji family and hair loss
Mutations in the hairless protein gene cause hair loss.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Enhanced Differentiation Potential of Pigmented Human Epidermal Equivalents
PmtHEE is a better model for studying pigmented skin because it includes melanocytes and shows improved cell differentiation.
research A new type of pachyonychia congenita.
A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
research 1433 Epithelially derived, mitochondrial MPZL3 negatively regulates murine and human hair follicle cycling
A protein called MPZL3 in mitochondria slows down hair growth and could be a target for treating hair growth disorders.
research 489 Seborrhea-like dermatitis phenotype in the Mpzl3 knockout mice
MPZL3 is crucial for seborrheic dermatitis development.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes
A gene mutation causes early keratinocyte maturation leading to hair loss in Olmsted syndrome.
research Decision letter: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
research Cloning, computational analysis and expression profiling of steroid 5 alpha-reductase 1 (SRD5A1) gene during reproductive phases and ovatide stimulation in endangered catfish, Clarias magur
The research identified and described a gene important for hormone conversion in endangered catfish, which varies in activity during different reproductive stages and after hormone treatment.