research Hoxc13 mutant mice lack external hair
Hoxc13 gene is essential for hair, nail, and papilla development.
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330-360 / 1000+ results research Characterization of the Role of Transferrin receptor 1 (Tfr1) in the Intestinal Epithelium, Pancreas, and Skin
Transferrin receptor 1 is essential for normal function in the intestines, pancreas, and skin.
research Molecular cloning, characterization, and expression of sheep FGF5 gene
Researchers identified a new variant of the FGF5 gene in sheep that affects hair length.
research ADAM17 variant causes hair loss via ubiquitin ligase TRIM47 mediated degradation
A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.
research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Foxc1 reinforces quiescence in self-renewing hair follicle stem cells
Foxc1 helps keep hair follicle stem cells inactive, preventing hair loss.
research Evidence for a functional interaction of WNT10A and EBF1 in male-pattern baldness
WNT10A and EBF1 interaction affects hair growth in male-pattern baldness.
research 647 NLRP1 promotes tumor growth by enhancing inflammasome activation and suppressing caspase-3 activity in human melanoma
NLRP1 helps melanoma tumors grow by boosting inflammasome activation and reducing caspase-3 activity.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease
Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
research Phenotypic variability associated withWNT10Anonsense mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research Adam10 haploinsufficiency causes freckle-like macules in Hairless mice
A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
research Le gènehairlessde la souris
The hairless gene is crucial for hair health, and its mutations cause hair loss.
research The variable cell
Hairless protein is key for hair growth, cell differences cause gene expression variation, and the N-end rule pathway senses nitric oxide for protein breakdown.
research Review of Women with Vision: The Presentation Sisters of South Dakota, 1880-1985
Knocking out the FGF5 gene in sheep increased wool production and hair-follicle density.
research Abstract 1026: A non-apoptotic function for Mcl-1 as an activator of canonical Wnt signaling in keratinocytes
Mcl-1 can activate Wnt signaling in skin cells, promoting growth and possibly cancer.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Nerve growth factor regulates the proliferation of cashmere goat outer root sheath cells through the activation of cAMP-binding protein
Nerve growth factor helps cashmere goat hair cells grow by activating a specific protein.
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 Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome
Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
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.
research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
research Careless talk costs lives: fibroblast growth factor receptor signalling and the consequences of pathway malfunction
Fibroblast growth factor receptor signaling controls cell development and repair, and its malfunction can cause disorders and cancer, but it also offers potential for targeted therapies.
research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
A specific gene mutation causes complete hair loss in an Irish Traveller family.
research WIF1 Is Expressed by Stem Cells of the Human Interfollicular Epidermis and Acts to Suppress Keratinocyte Proliferation
WIF1 helps keep skin stem cells inactive to prevent excessive cell growth.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita
Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
research A Case of Familial Male-limited Precocious Puberty with a Novel Mutation
A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
research Piecing together the pigment-type switching puzzle
The document concludes that MGRN1 affects mouse fur color by interfering with a receptor's signaling, but its full role in the body is still unknown.
research A function for Rac1 in the terminal differentiation and pigmentation of hair
Rac1 is crucial for normal hair structure and pigmentation.