research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
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420-450 / 1000+ resultsresearch 1386 Trichodysplasia spinulosa small T antigen drives ectopic hair follicle development in adult transgenic mice
The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.
A point mutation in the androgen receptor gene causes complete androgen insensitivity.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Tfap2b specifies an embryonic melanocyte stem cell that retains adult multi-fate potential
The gene Tfap2b is essential for creating a type of stem cell in zebrafish that can become different pigment cells.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research Temporal triangular alopecia
A 23-year-old man has a benign, non-progressive hair loss patch that doesn't respond to treatment but can be cosmetically treated.
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 [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
A gene mutation causes monilethrix in a Chinese family.
research Pten loss in Lgr5+ hair follicle stem cells promotes SCC development
Loss of Pten in certain hair follicle stem cells increases skin cancer risk.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
research Congenital triangular alopecia: A close mimicker of alopecia areata
CTA is often mistaken for AA but doesn't respond to steroids and may require hair transplantation.
research A man with frontal fibrosing alopecia
A 60-year-old man with a long-term balding condition also developed a rare hair loss condition usually seen in postmenopausal women.
research Targeted Inactivation of Gh/Tissue Transglutaminase II
Tgm2 helps stabilize dying cells and aids fibroblast attachment to the extracellular matrix.
research Tofacitinib treatment in a severe pediatric alopecia areata: A case report and a literature review
Oral tofacitinib may be an effective future treatment for children with severe alopecia areata, but more research is needed.
research Frontal fibrosing alopecia in an African man
Frontal fibrosing alopecia can affect African men and may be underdiagnosed.
research One Transgene: Two Outcomes
Modified β-catenin can cause different effects in mouse skin cells, leading to cysts or tumors depending on the cell type.
research Alopecia secondary to anti-tumor necrosis factor-alpha therapy
Anti-TNF therapy can cause hair loss and skin issues.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Genetic Variants at 20p11 Confer Risk to Androgenetic Alopecia in the Chinese Han Population
Genetic variants at 20p11 increase baldness risk in Chinese Han people.
research Frontal fibrosing alopecia: An update on the hypothesis of pathogenesis and treatment
The document concluded that more research is needed to find the best treatment for Frontal fibrosing alopecia.
research Trichothiodystrophy hair shafts display distinct ultrastructural features
Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
research Motoneuron-Specific PTEN Deletion in Mice Induces Neuronal Hypertrophy and Also Regeneration after Facial Nerve Injury
Deleting the PTEN gene in mice causes nerve cells to grow larger and heal better after injury, but may cause overgrowth and hair loss in older mice.
research A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu
A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research Exploring the Causal Relationship and Molecular Mechanisms Between Fasting Insulin and Androgenetic Alopecia: A Mendelian Randomization Study with Bioinformatics Analysis
Higher fasting insulin levels increase the risk of androgenetic alopecia.
research The complex relationship between TFEB transcription factor phosphorylation and subcellular localization
Phosphorylation controls TFEB's location in the cell, affecting cell metabolism and stress response.
research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
New mutations in hair keratin genes cause the rare hair disorder monilethrix.