research The Case | Bilateral kidney tumors and lung cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
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research A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
research miR-129-5p Participates in Hair Follicle Growth by Targeting HOXC13 in Rabbit
miR-129-5p affects hair growth by targeting the HOXC13 gene.
research Expression of a truncated form of hHb1 hair keratin in human breast carcinomas
Truncated hHb1 keratin may play a role in breast cancer cell transformation.
research Crosstalk between androgen and Wnt/β-catenin leads to changes of wool density in FGF5-knockout sheep
Blocking the FGF5 gene in sheep leads to more fine wool and active hair follicles due to changes in certain cell signaling pathways.
research FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research Decaying and expanding Erk gradients process memory of skeletal size during zebrafish fin regeneration
Erk signaling helps zebrafish fins regrow to the right size by using memory of the original size.
research What’s new in Birt–Hogg–Dubé syndrome?
New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
research The Association of Gene Expression and Single Nucleotide Polymorphism (rs 6152 SNP) in Androgen Receptor Gene with Recurrent Spontaneous Abortion (RSA) in Iraqi Women
The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.
research Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Mutations in the SNRPE gene cause hereditary hair loss.
research Role of EZH2 in Uterine Gland Development
EZH2 is crucial for uterine gland development and female fertility.
research An LRH-RSL4 feedback regulatory loop controls the determinate growth of root hairs in Arabidopsis
A feedback loop between LRH and RSL4 controls root hair growth in Arabidopsis.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Ectopic expression of FGF5s induces wool growth in Chinese merino sheep
Overexpression of FGF5s makes Chinese Merino sheep grow longer and heavier wool.
research Structure of human type II 5 alpha-reductase gene
The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
research Transcription Regulation and Protein Subcellular Localization of the Truncated Basic Hair Keratin hHb1-ΔN in Human Breast Cancer Cells
A truncated protein linked to breast cancer may change cell adhesion.
research Frontal fibrosing alopecia: reflections and hypotheses on aetiology and pathogenesis
FFA's causes may include environmental triggers and genetic factors.
research Cutaneous Ultrastructural Features of the Flaky Skin (fsn) Mouse Mutation
The flaky skin mouse mutation is a natural model for studying human psoriasis.
research The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep
The hr gene is linked to hair loss in Valle del Belice sheep.
research Growth retardation and hair loss in transgenic mice overexpressing human H-ferritin gene
Overexpressing the human H-ferritin gene in mice causes mild growth delay and temporary hair loss.
research Single nucleotide polymorphisms in the KRT82 promoter region modulate irregular thickening and patchiness in the dorsal skin of New Zealand rabbits
Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
research Frontal fibrosing alopecia: A review of disease pathogenesis
The cause of Frontal fibrosing alopecia, a type of hair loss, is complex, likely involving immune responses and genetics, but is not fully understood.
research Gene-Environment Interaction Between CYP1B1 and Oral Contraception on Frontal Fibrosing Alopecia
Oral contraceptive use may increase the risk of frontal fibrosing alopecia in women with a specific CYP1B1 gene variant.
research Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research Region-specific reversal of epidermal planar polarity in the rosette fancy mouse
Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
research 63452 Silencing key players of androgenetic alopecia pathogenesis in healthy human hair follicles ex vivo highlights the hair growth inhibitory effect of SFRP1
Reducing SFRP1 can promote hair growth and may help treat hair loss.
research Altered FGF expression profile in human scalp-derived fibroblasts upon WNT activation: implication of their role to provide folliculogenetic microenvironment
WNT activation in scalp fibroblasts boosts hair growth by increasing FGF9.
research Signal integrator function of CXXC5 in Cancer
CXXC5 can both suppress and promote cancer, making it a complex target for treatment.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research 1438 KLF4 maintains hair follicle stem cell quiescence
KLF4 is important for keeping hair follicle stem cells inactive.