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Glossary Chromosome

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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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”

This study identifies six novel keratin genes from the chromosome 17q21.2 region, suggesting their association with hair follicles, while all 27 keratin genes in the domain have been characterized transcriptionally.

research Toxicological Studies on Procyanidin B-2 for Extern?al Application as a Hair Growing Agent

30 citations , May 1999 in “Food and chemical toxicology”

This study suggests that topical procyanidin B-2 is safe for use as a hair growth agent, as it showed no mutagenic effects or significant irritation in a series of toxicological tests.

research Hair of the Dog: Identification of a Cis-Regulatory Module Predicted to Influence Canine Coat Composition

14 citations , April 2019 in “Genes”

This study identified a genetic locus associated with coat type in domestic dogs, showing certain variants linked to single-coated breeds and suggesting potential regulatory roles.

Patched-Associated Tumors: Modifier Genes and Pathogenesis

research Patched-assoziierte Tumoren: Modifikatorgene und Pathogenese

February 2022

This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.

research An Australian family with macular dystrophy linked to autosomal recessive alopecia universalis

3 citations , February 2001 in “British journal of ophthalmology”

This case report presents a 28-year-old woman with alopecia universalis and macular dystrophy, highlighting a potential new linkage between these conditions without previously identified associated genes.

research The Shaven (Sha) Mutation, Chromosome 15

1 citations , August 2020

This study found that mutations affecting hair keratin expression on Chromosome 15 in mice may cause altered hair and skin features similar to other known mouse mutations.

research Mapping of a novel locus for keratosis follicularis squamosa on chromosome 7p14.3–7p12.1

4 citations , September 2010 in “Journal of Dermatological Science”

This article reviews keratosis follicularis squamosa, a keratinizing disorder predominantly found in the Japanese population, but reports no new clinical results.

research A locus on distal chromosome 10 (ahl4) affecting age-related hearing loss in A/J mice

62 citations , April 2008 in “Neurobiology of aging”

This study identified a new genetic locus, ahl4, on distal Chromosome 10 that contributes to the early-onset, severe hearing loss in A/J mice compared to B6 mice.

research Prediction of male-pattern baldness from genotypes

37 citations , October 2015 in “European Journal of Human Genetics”

This study found that a genetic model using SNPs can predict early-onset male-pattern baldness with moderate accuracy, which may assist in decisions about interventions.

research Congenital Atrichia: A Case Report

September 2023 in “International journal of science and healthcare research”

In this report, a preterm neonate was found to have total irreversible hair loss due to congenital atrichia, confirmed by a mutation in the human hairless gene on chromosome 8p22, illustrating this rare autosomal recessive disorder.

research Identification of novel mutation in theHRgene responsible for atrichia with papular lesions in a Pakistani family

5 citations , September 2013 in “The Journal of Dermatology”

Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.

research Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases

January 2012 in “Faculty of Health; Institute of Health and Biomedical Innovation”

This study found six new genetic factors linked to early-onset androgenetic alopecia and its association with increased risk of Parkinson's disease and decreased fertility.

research Banded Scalp Hair with an Unusual Glistening Appearance in a Teenager: A Quiz

1 citations , January 2018 in “Acta dermato-venereologica”

A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.

research Cosmeceutical Treatments for Androgenetic Alopecia

August 2015

This review discusses the genetic and hormonal factors involved in androgenetic alopecia but reports no new research findings.

research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation

11 citations , July 2010 in “European Journal of Dermatology”

In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.

research Characterization of X-Linked SNP genotypic variation in globally distributed human populations

31 citations , January 2010 in “GenomeBiology.com (London. Print)”

This study reports that X chromosomes often show greater differentiation between human populations than autosomes, likely due to a mix of demography and selection pressures.

research Characterisation of Three Ovine KRTAP13 Family Genes and Their Association with Wool Traits in Chinese Tan Sheep

3 citations , October 2024 in “Animals”

This study identified three genes in the ovine KAP13 family on chromosome 1 and found that a specific allele of KRTAP13-2 is associated with improved wool fibre diameter uniformity in Chinese Tan sheep, suggesting its potential use as a marker for enhancing wool traits.

Copy Number Variation Regions in Nellore Cattle: Evidence of Environmental Adaptation

research Copy number variation regions in Nellore cattle: Evidences of environment adaptation

21 citations , November 2017 in “Livestock science”

This study confirms the presence of large structural variations in the genome of Nellore cattle, which may contribute to their environmental adaptation to tropical regions.

Cloning of the Human Phenol Sulfotransferase Gene Family: Three Genes Implicated in the Metabolism of Catecholamines, Thyroid Hormones, and Drugs

research Cloning of the human phenol sulfotransferase gene family: three genes implicated in the metabolism of catecholamines, thyroid hormones and drugs

26 citations , February 1998 in “Chemico-Biological Interactions”

This review discusses recent molecular biology advances in the human phenol sulfotransferase gene family and reports no new results; the authors highlight its relevance for studies of endogenous and xenobiotic metabolism.

research FOXN1 Duplication and Congenital Hypertrichosis

3 citations , March 2017 in “Pediatric Dermatology”

This case report documents the first known instance of FOXN1 duplication linked to congenital hypertrichosis.

research Lithium alters mitotic progression in stamen hair cells of Tradescantia in a time-dependent and reversible fashion.

28 citations , October 1987 in “PubMed”

This study found that treating Tradescantia stamen hair cells with LiCl disrupts mitotic progression, leading to metaphase arrest, which can be reversed by myo-inositol or CaCl2 addition.

research Index of Suspicion

2 citations , May 2007 in “Pediatrics in Review”

This case study reports a teenage boy with juvenile polyposis syndrome, presenting with microcytic anemia, growth failure, and rectal bleeding, leading to the diagnosis following colonoscopy and histologic examination of colonic polyps.

research Primary Amenorrhoea

April 2024 in “International Journal of Advanced Multidisciplinary Research and Studies”

This study outlines a multidisciplinary approach to investigate primary amenorrhea, emphasizing the necessity to consider medical history, physical examination, and potential hormonal or anatomical causes, and recommends early referral in cases of chromosomal abnormalities or persistent amenorrhea following the development of secondary sexual characteristics.

research THE PATHOGENESIS OF ALOPECIA AREATA

89 citations , October 1996 in “Dermatologic Clinics”

This review discusses androgenetic alopecia and alopecia areata through a systems biology lens, emphasizing the role of multi-omics data integration to explore molecular mechanisms and potential therapeutic strategies, but offers no new clinical results.

research Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage

3 citations , June 2017 in “Reproductive biomedicine online”

In this study, the SRD5A2 rs523349 polymorphism was significantly associated with an increased risk of miscarriage, particularly during the second trimester.

research Finding bald spots on chromosome 20p11

1 citations , February 2009 in “Clinical Genetics”

This study identified new genetic variants on chromosome 20p11 associated with male pattern baldness.

research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2

May 2015 in “Journal of Dermatological Science”

Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.

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”

This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.

research Insertional mutation of the hairless locus on mouse Chromosome 14

19 citations , November 1993 in “Mammalian Genome”

This study reports that transgene insertion in homozygous transgenic mice causes irreversible hair loss and impaired immune function, linked to interruption of the hairless locus on Chromosome 14.

research Genome-wide Scan and Fine-Mapping Linkage Study of Androgenetic Alopecia Reveals a Locus on Chromosome 3q26

62 citations , March 2008 in “American Journal of Human Genetics”

This study located a potential genetic link for androgenetic alopecia on chromosome 3q26, marking an early step in identifying new susceptibility genes for male pattern baldness.