research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
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research Genome-wide DNA methylation and transcriptome analyses reveal the key gene for wool type variation in sheep
The SOSTDC1 gene is crucial for determining sheep wool type.
research Human Leukocyte Antigen Class II Alleles Are Associated with Risk of Alopecia Areata
Certain HLA class II alleles increase or decrease the risk of alopecia areata.
research A Study of Combined Genotype Effects of SHCBP1 on Wool Quality Traits in Chinese Merino
research Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
A new mutation in the HR gene causes hair loss in a specific family.
research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
Researchers found a new mutation causing total hair loss from birth.
research Association between genetically predicted leukocyte telomere length and non-scarring alopecia: A two-sample Mendelian randomization study
Shorter telomeres in white blood cells may increase the risk of a common type of hair loss.
research Clinical-Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome (PCOS) Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment
Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
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 Highly Conserved Keratin-Associated Protein 7-1 Gene in Yak, Taurine and Zebu Cattle
The KRTAP7-1 gene is very similar across different cattle and yak breeds and likely plays a role in hair strength and shape.
research Genome-wide detection and sequence conservation analysis of long non-coding RNA during hair follicle cycle of yak
Researchers found that certain RNA sequences play a role in yak hair growth and these sequences are somewhat similar to those in cashmere goats.
research P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
research The genetics of alopecia areata
Alopecia areata has a complex genetic basis that was not fully understood as of 2001.
research Characterisation of Four New Genes in the Ovine KAP19 Family
Four new genes related to sheep wool were discovered, showing genetic diversity.
research Identification of differentially expressed genes affecting hair and cashmere growth in the Laiwu black goat by microarray
Specific genes influence hair and cashmere growth in Laiwu black goats.
research Proteomic analysis identifies differentially expressed proteins participating in forming Type III brush hair in Yangtze River Delta white goat
Researchers found four key proteins that affect the development of a specific hair type in Yangtze River Delta white goats.
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research A Novel Point Mutation in the Ligand-Binding Domain (LBD) of the Human Glucocorticoid Receptor (hGR) Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus of hGR LBD in Conferring Transactivational Activity
A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
research A second KRT 71 allele in curly coated dogs
A new gene variant causes curly coats in some dog breeds.
research Integrative analysis of Iso-Seq and RNA-seq data reveals transcriptome complexity and differential isoform in skin tissues of different hair length Yak
Different genes affect hair length in yaks.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
research Utilizing functional genomics approaches to characterize risk genes in alopecia areata
Certain genetic changes in the STX17 and KRT82 genes contribute to hair loss in alopecia areata.
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 Analysis of Genetic Diversity and Construction of a Core Collection of Ginkgo biloba Germplasm Using EST-SSR Markers
Ginkgo biloba has high genetic diversity, useful for future breeding.
research Global Landscapes of Human Phenotypic Variation in Inherited Traits
Different human traits like skin color and hair type vary between populations due to genetic adaptations to the environment.
research Genome-wide detection and sequence conservation analysis of long non-coding RNA during hair follicle cycle of yak
The study found key long non-coding RNAs involved in yak hair growth cycles.
research Host Genetic Susceptibility and Impacts of Dietary Factors on Covid-19
Certain genes and nutrients like vitamin D, zinc, and omega fatty acids affect COVID-19 severity and infection risk.
research An Integrated Analysis of Cashmere Fineness lncRNAs in Cashmere Goats
lncRNA XLOC_008679 and gene KRT35 affect cashmere fineness in goats.
research Analysis of Histology and Long Noncoding RNAs Involved in the Rabbit Hair Follicle Density using RNA Sequencing
Long noncoding RNAs help regulate hair follicle density in rabbits.