The short-stature homeobox gene (SHOX), also known as short-stature-homeobox-containing gene, is a gene located on both the X and Y chromosomes, which...
11 KB (1,240 words) - 08:49, 4 January 2024
Growth hormone deficiency (category Articles with short description)
of specific genes (e.g., GHRHR, GH1) congenital diseases such as Prader-Willi syndrome, Turner syndrome, or short-stature homeobox gene deficiency congenital...
28 KB (3,067 words) - 05:39, 26 June 2024
Growth hormone therapy (category Articles with short description)
in toddlers with Turner syndrome, as well as in older girls. Short-stature homeobox gene deficiency Chronic kidney failure results in many problems, including...
38 KB (4,777 words) - 05:38, 5 August 2024
SHOX2 (redirect from SHOX2 (gene))
Short-stature homeobox 2, also known as homeobox protein Og12X or paired-related homeobox protein SHOT, is a protein that in humans is encoded by the...
5 KB (696 words) - 18:49, 23 April 2024
Homeobox protein goosecoid (GSC) is a homeobox protein that is encoded in humans by the GSC gene. Like other homeobox proteins, goosecoid functions as...
15 KB (1,845 words) - 13:00, 4 October 2023
Turner syndrome (category Syndromes affecting stature)
trisomy X, is caused by the short-stature homeobox gene on the X and Y chromosomes. The absence of a copy of the SHOX gene in Turner's inhibits skeletal...
77 KB (9,067 words) - 19:56, 23 August 2024
Langer mesomelic dysplasia (category Articles with short description)
mutations of the short-stature homeobox gene (SHOX), located at the pseudoautosomal region PAR1 of the human sex chromosomes, or this gene's enhancer region...
5 KB (465 words) - 00:10, 2 July 2024
Léri–Weill dyschondrosteosis (category Articles with short description)
in the short-stature homeobox gene found in the pseudoautosomal region PAR1 of the X and Y chromosomes, at band Xp22.33 or Yp11.32. SHOX gene deletions...
4 KB (304 words) - 05:53, 12 June 2024
Aristaless related homeobox, is a protein associated with intellectual disability and lissencephaly. This gene is a homeobox-containing gene expressed during...
18 KB (1,927 words) - 16:56, 28 July 2024
Septo-optic dysplasia (category Articles with short description)
Brickman JM, Gupta R, Mårtensson IL, et al. (June 1998). "Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse"...
11 KB (1,077 words) - 07:23, 15 April 2024
Homeobox protein OTX2 is a protein that in humans is encoded by the OTX2 gene. This gene encodes a member of the bicoid sub-family of homeodomain-containing...
20 KB (2,642 words) - 12:54, 9 January 2024
ADNP syndrome (category Articles with short description)
disorder caused by mutations in the activity-dependent neuroprotector homeobox (ADNP) gene. The hallmark features of the syndrome are intellectual disability...
16 KB (1,520 words) - 11:20, 24 August 2024
Wiedemann–Rautenstrauch syndrome (category Articles with short description)
Wiedemann-Rautenstrauch syndrome. Am J Hum Genet "DLX3 distal-less homeobox 3 [Homo sapiens (human)]". Gene - National Center for Biotechnology Information (NCBI)...
8 KB (761 words) - 20:43, 20 August 2024
LHX4 (redirect from LHX4 (gene))
LIM/homeobox protein Lhx4 is a protein that in humans is encoded by the LHX4 gene. This gene encodes a member of a large protein family which contains...
5 KB (549 words) - 16:04, 11 October 2022
DAX1 (redirect from Dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1)
tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene". American...
14 KB (1,842 words) - 09:33, 10 June 2024
XYY syndrome (category Articles with short description)
"Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome". Nat Genet. 16 (1): 54–63...
88 KB (9,969 words) - 05:35, 13 August 2024
Mothers against decapentaplegic homolog 4 (redirect from MADH4 gene)
syndrome, a rare inherited disorder characterized by mental disabilities, short stature, unusual facial features, and various bone abnormalities. GRCh38: Ensembl...
28 KB (3,335 words) - 04:19, 25 July 2024
Thyroid hormone receptor (category Genes on human chromosome 17)
Thus, patients with this condition have consistently presented with short stature. Symptoms of thyroid hormone resistance syndrome can be similar to those...
21 KB (2,294 words) - 09:46, 23 July 2024
Estrogen receptor alpha (redirect from ESR1 (gene))
presentation in a male was reported to include lack of epiphyseal closure, tall stature, osteoporosis, and poor sperm viability. Both individuals were completely...
58 KB (6,133 words) - 05:31, 13 July 2024
SOX3 (redirect from SOX3 (gene))
this gene have been associated with X-linked hypopituitarism (XH) and X-linked mental retardation. Patients with XH are male, have short stature, exhibit...
11 KB (1,396 words) - 05:30, 5 August 2024
Basic helix-loop-helix ARNT-like protein 1 (redirect from ARNTL (gene))
and muscle ARNT-like 1 is a protein that in humans is encoded by the BMAL1 gene on chromosome 11, region p15.3. It's also known as MOP3, and, less commonly...
48 KB (5,652 words) - 07:34, 3 June 2024
Outline of biology (category Articles with short description)
– ovum – zygote – embryo – cellular differentiation – morphogenesis – homeobox Immune system antibody – host – vaccine – immune cell – AIDS – T cell –...
36 KB (3,230 words) - 03:39, 6 August 2024
Gudrun Rappold (category Articles with short description)
"Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome". Nature Genetics. 16 (1):...
13 KB (1,199 words) - 13:07, 15 August 2024
Pituitary adenoma (category Articles with short description)
Hermesz E, Palkóvits M, Westphal H (January 2010). "A role of the LIM-homeobox gene Lhx2 in the regulation of pituitary development". Developmental Biology...
55 KB (5,802 words) - 06:39, 19 August 2024
chromatin in a wide variety of taxa. KNOTTED-like homeobox genes, homologs of the maize KNOTTED1 gene that control shoot apical meristem identity, were...
82 KB (5,682 words) - 04:50, 16 August 2024
Axenfeld–Rieger syndrome (category Articles with short description)
Clonación y caracterización de un nuevo gen del factor de transcripción homeobox relacionado con bicoides, RIEG, implicado en el síndrome de Rieger. Nat...
24 KB (2,750 words) - 02:44, 24 July 2024
Thiamine transporter 1 (redirect from SLC19A2 (gene))
variable features include optic atrophy, congenital heart defects, short stature, and stroke. A 3.8 kb transcript is expressed variably in most tissues...
16 KB (1,882 words) - 00:20, 10 March 2024
Transcription factor II H (category Gene expression)
intellectual impairment, decreased fertility and/or short stature. Genetic polymorphisms of genes that encode subunits of TFIIH are known to be associated...
11 KB (1,184 words) - 17:23, 4 December 2023
Timeline of aging research (category Articles with short description)
extends life span and delays aging in mice through the regulation of Nk2 homeobox 1 in the DMH and LH". Cell Metabolism. 18 (3): 416–430. doi:10.1016/j.cmet...
178 KB (17,599 words) - 00:25, 15 August 2024