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Adrenal 21-Hydroxylase Gene Mutations in Slovenian Hyperandrogenic Women: Evaluation of Corticotrophin Stimulation and HLA Polymorphisms in Screening for Carrier Status

research Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status

19 citations , August 1999 in “European journal of endocrinology”

The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.

research SP1 and KROX20 Regulate the Proliferation of Dermal Papilla Cells and Target the CUX1 Gene

January 2024 in “Animals”

SP1 promotes and KROX20 inhibits hair cell growth by affecting the CUX1 gene.

research Identical p53 gene mutation in malignant proliferating trichilemmal tumour of the scalp and small cell carcinoma of the common bile duct: the necessity for therapeutic caution?

11 citations , May 2008 in “British journal of dermatology/British journal of dermatology, Supplement”

Identical p53 gene mutations in different cancers suggest the need for careful treatment.

research Association of HSPA1B SNP rs6457452 with Alopecia Areata in the Korean Population

12 citations , December 2013 in “Immunological Investigations”

The SNP rs6457452 is linked to a higher risk of alopecia areata in Koreans.

research Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease

January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)”

Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.

research 127 NDRG1 regulates proliferation of endothelial cells of infantile hemangioma

April 2018 in “Journal of Investigative Dermatology”

NDRG1 protein helps infantile hemangioma, a common infant tumor, to grow, and its mismanagement by FOXO1 protein plays a big role in causing the tumor.

research The Tissue-dependent Keratin 19 Gene Transcription Is Regulated by GKLF/KLF4 and Sp1

119 citations , September 2000 in “Journal of Biological Chemistry”

GKLF/KLF4 and Sp1 control Keratin 19 gene activity, influencing cancer-related changes.

research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6

32 citations , January 2000 in “Human Heredity”

Monilethrix severity varies and may be influenced by other genetic or environmental factors.

research A function for Rac1 in the terminal differentiation and pigmentation of hair

11 citations , January 2012 in “Journal of cell science”

Rac1 is essential for proper hair structure and color.

Site of Beige and Leaden Pigment Gene Expression Determined by Recombinant Embryonic Skin Grafts and Aggregation Mouse Chimaeras Employing Sash Homozygotes

research Site of beige (bg) and leaden (ln) pigment gene expression determined by recombinant embryonic skin grafts and aggregation mouse chimaeras employing sash (W^sh) homozygotes

7 citations , October 1985 in “Genetics Research”

Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.

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