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GlossaryChromosome

long DNA molecule with part or all of genetic material

A chromosome is a long, thread-like structure made of DNA and proteins that carries genetic information. In humans, each cell typically contains 46 chromosomes, which are organized into 23 pairs. These structures are crucial for the proper distribution of genetic material during cell division and play a key role in heredity and the functioning of an organism.

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research Characterization of a First Domain of Human High Glycine-Tyrosine and High Sulfur Keratin-Associated Protein Genes on Chromosome 21q22.1

100 citations, December 2002 in “Journal of biological chemistry/The Journal of biological chemistry”

Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.

Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 21 in Fond Memory of Dr. Peter Steinert

research Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 21 in Fond Memory of Dr. Peter Steinert

62 citations, January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology”

A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.

Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-Associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21

research Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-Associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21

98 citations, June 2001 in “Journal of biological chemistry/The Journal of biological chemistry”

A cluster of sulfur-rich hair protein genes was found on chromosome 17.

research Identification of the Ovine Keratin-Associated Protein 21-1 Gene and Its Association with Variation in Wool Traits

7 citations, July 2019 in “Animals”

The KRTAP21-1 gene affects wool yield and can help improve wool production.

research The Pathogenesis of Alopecia Areata

89 citations, October 1996 in “Dermatologic Clinics”

Alopecia areata is likely caused by a combination of genetic factors and immune system dysfunction, and may represent different diseases with various causes.

research Alopecia Areata and Down Syndrome: A True Association and the Importance of Dermoscopic Diagnosis

April 2016 in “Journal of The American Academy of Dermatology”

People with Down syndrome are more likely to experience hair loss, and using dermoscopy can help diagnose it.

research Size Polymorphisms in the Human Ultrahigh Sulfur Hair Keratin-Associated Protein 4, KAP4, Gene Family

27 citations, June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology”

The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.

research Human KAP Genes: Only Half of It? Extensive Size Polymorphisms in Hair Keratin-Associated Protein Genes

53 citations, June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology”

KAP genes show significant genetic variability, but its impact on hair traits is unclear.

research The Sheep KAP8-2 Gene, A New KAP8 Family Member That Is Absent In Humans

25 citations, September 2014 in “SpringerPlus”

Sheep have a unique gene, KAP8-2, that humans don't have, which may affect wool properties.

The Human Type I Keratin Gene Family: Characterization of New Hair Follicle Specific Members and Evaluation of the Chromosome 17q21.2 Gene Domain

research The Human Type I Keratin Gene Family: Characterization of New Hair Follicle Specific Members and Evaluation of the Chromosome 17q21.2 Gene Domain

70 citations, December 2004 in “Differentiation”

The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.

research The Mean Staple Length of Wool Fiber Is Associated with Variation in the Ovine Keratin-Associated Protein 21-2 Gene

4 citations, January 2020 in “Genes”

The KRTAP21-2 gene affects wool length and quality in sheep.

research Sperm Aneuploidy in Infertile Male Patients: A Systematic Review of the Literature

26 citations, October 2014 in “Andrologia”

Infertile men are more likely to produce sperm with abnormal chromosome numbers, which can affect pregnancy success and embryo health.

research Discordant Phenotype in Monozygotic Twins with Mosaic Trisomy 12p in Lymphocytes

13 citations, June 2012 in “European journal of medical genetics”

Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.

research Australian Hair and Wool Research Society Cutaneous Biology and Endocrinology Workshop

April 2003 in “Experimental Dermatology”

The workshop highlighted the genetic links and psychological impacts of hair loss and skin disorders.

research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes

53 citations, January 2011 in “Diabetes”

People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.

research Abstracts

October 2003 in “Journal of Investigative Dermatology Symposium Proceedings”

Mice treatments didn't grow hair, a patient treatment may affect immune response, and people with hair loss often feel anxious or depressed.

research Increased Copy Number of the TERT and TERC Telomerase Subunit Genes in Cancer Cells

145 citations, May 2008 in “Cancer Science”

Cancer cells often have more copies of TERT and TERC genes, which helps them grow and could affect patient outcomes.

research Immunological Profile of Patients with Down Syndrome and Alopecia Areata

1 citations, January 2015 in “Advanced techniques in biology & medicine”

Down Syndrome patients with Alopecia Areata often have hypothyroidism and specific immune abnormalities.

research Darwinian Health and Other Contradictions

September 2016 in “Princeton University Press eBooks”

The document concludes that understanding health requires considering evolutionary perspectives on reproductive fitness, and recognizing the complexity of factors like diet, testosterone, and sexual orientation.

research Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata

143 citations, January 2007 in “The American Journal of Human Genetics”

Certain genes on chromosomes 6, 10, 16, and 18 may increase the risk of alopecia areata.

research Expression of Novel Keratin-Associated Protein 5 Genes in the Cuticle Layer of Human Hair Follicles

6 citations, April 2005 in “Journal of dermatological science”

The study found nine new hair protein genes in human hair follicles.

research Hair for Brain Trade-Off: A Metabolic Bypass for Encephalization

3 citations, September 2014 in “SpringerPlus”

Human hair loss may have evolved to help increase brain size.

research Clinical and Genetic Aspects of Alopecia Areata: A Cutting Edge Review

1 citations, June 2023 in “Genes”

Hair loss from Alopecia Areata is caused by both genes and environment, with several treatments available but challenges in cost and relapse remain.

research Genomic and Transcriptomic Characterization of Atypical Recurrent Flank Alopecia in the Cesky Fousek

2 citations, April 2022 in “Genes”

The study found that the hair loss condition in Cesky Fousek dogs is influenced by multiple genes affecting skin and muscle structure, fat metabolism, and immunity.

research Androgen Sensitivity Gateway to COVID-19 Disease Severity

123 citations, May 2020 in “Drug Development Research”

Men's sensitivity to male hormones might affect how severe COVID-19 gets for them.

research Mammalian Keratin-Associated Proteins (KRTAPs) Subgenomes: Disentangling Hair Diversity and Adaptation to Terrestrial and Aquatic Environments

65 citations, September 2014 in “BMC genomics”

Different hair types in mammals are linked to variations in specific protein genes, with changes influenced by their living environments.

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED) Due to AIRE T16M Mutation in a Consanguineous Greek Girl

research Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED) Due to AIRE T16M Mutation in a Consanguineous Greek Girl

6 citations, January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

research Dysregulation of the Immune System in a Natural History Study of 1299 Individuals with Down Syndrome

December 2023 in “Research Square (Research Square)”

People with Down syndrome have higher rates of certain immune-related conditions and need special medical attention.

research Dermatologic Manifestations of Endocrine Disorders

86 citations, October 2017 in “Translational pediatrics”

Skin changes can help diagnose and manage endocrine disorders like thyroid problems, diabetes, and adrenal gland conditions.

research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report

April 2024 in “Research Square (Research Square)”

A 27-year-old with APS-1 showed improvement in symptoms after treatment.