research Combined transcriptomics and proteomics forecast analysis for potential genes regulating the Columbian plumage color in chickens
MED23 and GNAQ genes are crucial for chicken feather color.
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research STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone
The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
research Trichothiodystrophy
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research Identification of the Ovine Keratin-Associated Protein 26-1 Gene and Its Association with Variation in Wool Traits
Selecting specific KRTAP26-1 gene variants can improve wool quality in sheep.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
research Vice president's message
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research Congenital Hypotrichosis in Japanese White Strain (JW-NIBS) Rabbits.
A single recessive gene causes sparse hair in certain Japanese White rabbits.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research Isolation and Characterization of a Putative Keratin-Associated Protein Gene Expressed in Embryonic Skin of Mice
The 4C32 gene may help in mouse skin development and differentiation.
research Ovine KRT81 Variants and Their Influence on Selected Wool Traits of Commercial Value
KRT81 gene variations in sheep affect wool weight but not fiber length or thickness.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research 269 The PPAR-γ modulator, N-acetyl-GED, protects from epithelial-mesenchymal-transition to human hair follicles: Potential relevance for scarring alopecia
N-acetyl-GED may help prevent and partially reverse a process that leads to scarring hair loss.
research Efficacy of 532-nm Nd: YAG Fractional Picosecond Laser with 9 mm High Coverage Handpiece Micro Lens Array in the Treatment of Facial Partial Unilateral Lentiginosis: A Case Report
The laser treatment effectively improved facial pigmentation with no major side effects.
research Editor's evaluation: Plant Trans-Golgi Network/Early Endosome pH regulation requires Cation Chloride Cotransporter (CCC1)
CCC1 is crucial for pH balance in plant cells, affecting growth and stress tolerance.
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.
research The in vitro Assembly of Hair Follicle Keratins: Comparison of Cortex and Companion Layer Keratins
Different conditions affect how hair proteins assemble, and certain mutations can change their structure.
research Lgr6+ cells in the biological system during homeostasis and injury
Lgr6+ cells are important for tissue repair and could be a target for treating cancer and other diseases.
research GLABROUS INFLORESCENCE STEMS3 binds to and activates RHD2 and RHD4 genes to promote root hair elongation in Arabidopsis
A protein called GIS3 is important for the growth of root hairs in Arabidopsis by controlling two genes with the help of certain growth signals.
research 486 Molecular Mechanisms of Type II Spiral Ganglion Neuron Development
research [Anejaculation caused by haemosiderosis: male infertility in hereditary haemochromatosis].
Early diagnosis and treatment of haemochromatosis are crucial for reversing organ damage and improving fertility.
research Screening and Expression of Keratin EST in Xinji Fine Wool Sheep
Four keratin genes are crucial for hair growth in Xinji fine wool sheep.
research The Tabby (Ta), Tabby-c (Tac), and Tabby-J (TaJ) Mutations, Chromosome X
Tabby mutations in mice affect hair follicle development and help study genetic mapping and certain medical conditions.
research Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.