research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing
The study found genetic variations in sheep linked to traits like milk production, growth, and health.
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150-180 / 1000+ results research X linked mental retardation.
X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han 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 A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing
Chinese fine-wool sheep have genetic variations linked to traits like milk and health, with some genes under strong selection.
research Identification of the KAP27-1 gene in sheep and its effect on wool traits
The KRTAP27-1 gene variations in sheep may affect wool length and weight.
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 DNMT3B -579G>T POLYMORPHİSM AND THE RİSK OF COLORECTAL CANCER IN AZERBAİJAN POPULATİON
The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Clinical Case Notes. Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome
The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
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 An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
research Investigating material basis and molecular mechanism of Qing Cuo formula in the treatment of acne based on animal experiments, UPLC-LTQ-Orbitrap-MS and network pharmacology
Qing Cuo Formula may effectively treat acne by reducing inflammation and hormone levels.
research Identification of the Rat Rex Mutation as a 7-bp Deletion at Splicing Acceptor Site of the Krt71 Gene
A gene mutation causes curly hair and hair loss in rats.
research HOXC13 Is Involved in the Regulation of Human Hair Keratin Gene Expression
HOXC13 is crucial for regulating hair keratin genes in hair follicles.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
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 Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome
A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
research DKK4 as a novel candidate marker for Zhexi Angora rabbit wool quality
DKK4 can be used to improve wool quality in Zhexi Angora rabbits.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Lineage‐specific requirements of Alx4 function in craniofacial and hair development
ALX4 is crucial for normal craniofacial and hair development, with specific roles in different cell types.
research Overexpression of Hoxc13 in differentiating keratinocytes results in downregulation of a novel hair keratin gene cluster and alopecia
Overexpression of Hoxc13 in hair cells causes hair loss and skin issues.
research Foxc1 reinforces quiescence in self-renewing hair follicle stem cells
Foxc1 helps keep hair follicle stem cells inactive, preventing hair loss.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
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 Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research Mutant Cx43 in Skin Differentiation and Disease
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.