research A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.
Pachyonychia congenita is linked to a keratin gene on chromosome 17.
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840-870 / 1000+ resultsresearch C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Expression level of leucine-rich repeat containing 15 regulates characteristics of dermal papilla cells of human hair follicle
The gene LRRC15 is more active in balding areas of the scalp compared to non-balding areas.
research Effects of permanent waving on changes of protein and physicomorphological properties in human head hair.
Repeated digital perming with sodium thioglycolate lotion significantly damages hair protein and structure.
research Uptake and Utilisation of Amino Acids by Human Hair Follicles and Related Cells
Cysteine and arginine are essential for hair growth and thickness.
research Connexin 30, a new marker of hyperproliferative epidermis
Connexin 30 is usually absent in normal skin but can appear in certain skin conditions.
research PRC 2 preserves intestinal progenitors and restricts secretory lineage commitment
PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.
research LB789 Novel IFNγ aptamer TAGX-0003 protected hair follicles from immune privilege collapse and reversed Alopecia Areata like phenotype in humanized mouse model
TAGX-0003 protected hair follicles and reversed alopecia areata in a mouse model.
research Identification de 2 polymorphismes génétiques (SNPs) associés aux spondylarthropathies (SpA) dans le locus SPA2 (9q31-34)
research Targeted expression of spermidine/spermine N1-acetyltransferase increases susceptibility to chemically induced skin carcinogenesis
Increasing SSAT makes skin more prone to cancer.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
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 Cancer vaccine strategies and studies of human thioredoxin reductase splice variants
Vaccines and targeting TrxR variants can help prevent cancer and reduce metastasis.
research Conserved γδ T cell selection by BTNL proteins limits progression of human inflammatory bowel disease
BTNL proteins help control inflammatory bowel disease by maintaining specific immune cells.
research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
research LB1019 The early region of trichodysplasia spinulosa polyomavirus drives proliferation, altered differentiation, and ectopic expression of hair follicle differentiation markers in interfollicular tail epidermis
The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
research Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
A new mutation in the HR gene causes hair loss in a specific family.
research Identification of Trichophyton rubrum by Nested PCR Analysis from Paraffin Embedded Specimen in Trichophytia Profunda Acuta of the Glabrous Skin
Nested PCR can reliably identify fungal infections when traditional methods fail.
research Autosomal recessive congenital ichthyosis due to PNPLA 1 mutation in a golden retriever–poodle cross‐bred dog and the effect of topical therapy
Long-term oral and topical treatments improved skin condition in a goldendoodle with a genetic disorder.
research Advantages of Incomplete Digestion in Human Hair Shaft Proteomics, a Focus on Cuticular Keratins
The new method improves protein extraction and analysis in hair, aiding biomedical and forensic work.
research Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages
The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
research Acrodermatitis Enteropathica‐like Eruption in an Infant with Nonketotic Hyperglycinemia
A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
research Hypertrichosis lanuginosa acquisita associated with autoimmune hepatitis
HLA can be linked to autoimmune hepatitis.
research The anti wrinkle efficacy of synthetic hexapeptide (Argireline) in Chinese Subjects
Argireline significantly reduces wrinkles.
research Overexpression of parathyroid hormone-related protein in the skin of transgenic mice interferes with hair follicle development.
Too much parathyroid hormone-related protein in skin disrupts hair growth in mice.
research Trichohyalin: Presence in the Granular Layer and Stratum Corneum of Normal Human Epidermis
Trichohyalin is also found in the outer layers of normal human skin.
research The RATIOnal Role of Polyamines in Epidermal Differentiation
Adjusting polyamine levels could help treat skin disorders like psoriasis and skin cancer.
research Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology
Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.