research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
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240-270 / 1000+ resultsresearch 199 Impairment of notch 1 signaling is a common defect in lesions from patients with hidradenitis suppurativa
Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
research Image2.TIF
GPC1 is important for blood vessel growth in hair follicles and could help treat hair loss.
research The association between rs2476601 polymorphism in PTPN22 gene and risk of alopecia areata
The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
research Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2
A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
research WISP-1 induced by mechanical stress contributes to the fibrosis and hypertrophy of ligamentum flavum via the Hedgehog-Gli1 signaling
Mechanical stress causes ligament thickening through WISP-1 and Hedgehog signaling.
research NUDT15 polymorphism explains serious toxicity to azathioprine in Indian patients with chronic immune thrombocytopenia and autoimmune hemolytic anemia: a case series
The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.
research Matriptase-2, A Novel Suppressor of Hepcidin.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
research Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis
Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
research Structure-guided PEGylated fibroblast growth factor 2 variants accelerate wound healing with improved stability
Compound 6 is a promising candidate for better wound healing.
research Integrative Proteo‐Transcriptomic Characterization of Androgenetic Alopecia Identifying ME1 ‐Mediated PPAR Signaling as a Potential Mediator
ME1 and PPAR signaling may influence hair loss in androgenetic alopecia.
research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research 257 Is EBF1 a negative regulator of WNT10A in the development of androgenetic alopecia?
Finasteride helps female-pattern hair loss.
research A mouse with bad hair and poor taste
A defective gene causes hair loss and taste insensitivity in BTBR mice.
research Androgenetic alopecia: Identification of four genetic risk loci and evidence for the contribution of WNT signaling to its etiology
Four genetic risk areas related to male-pattern baldness were identified, with WNT signaling playing a role in its development.
research Safety and efficacy of advanced and targeted acid α-glucosidase (AT-GAA) (ATB200/AT2221) in ERT-switch nonambulatory patients with Pompe disease: preliminary results from the ATB200-02 trial
The combination of tadalafil and finasteride improves urinary symptoms and erectile function in men with enlarged prostates.
research Mice humanised for the EGF receptor display hypomorphic phenotypes in skin, bone and heart
Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
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 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research 851 The role of astrotactin2 in regulating mammalian skin polarity
Astrotactin2 affects hair follicle orientation and skin cell polarity.
research Identification of Pygopus 2 as a component of the ribosomal RNA transcription complex in cancer
Pygopus 2 helps ovarian cancer cells grow by aiding ribosomal RNA production, independent of Wnt signaling.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Latent transforming growth factor beta-binding protein 1 (LTBP1): roles as a multifunctional extracellular matrix regulator in human disease. From molecular mechanisms to clinical translation prospects
LTBP1 is a key regulator in diseases and a potential target for new treatments.
research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research Polymorphisms and association of FAT1 gene with wool quality traits in Chinese Merino sheep
The FAT1 gene and its variations can help improve wool quality in Chinese Merino sheep through selective breeding.
research The role of AUTS2 in neurodevelopment and human evolution
The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
research Effects of TGFBR1 on Proliferation of Dermal Papilla Cells in Fine-Wool Sheep
TGFBR1 slows down cell growth in fine-wool sheep hair follicles.
research PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect
A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
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 Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.